SNP Links for Protein (Select 530362674) - SNP

Select item 14906876821.

rs1490687682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:45600391 (GRCh38)
1:46066063 (GRCh37)
Canonical SPDI:: NC_000001.11:45600390:T:G
Gene:: NASP (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45600391T>G, NC_000001.10:g.46066063T>G, NG_029224.1:g.21404T>G, XM_005270888.4:c.47T>G, XM_005270888.3:c.47T>G, XM_005270888.2:c.47T>G, XM_005270888.1:c.47T>G, XM_005270889.4:c.47T>G, XM_005270889.3:c.47T>G, XM_005270889.2:c.47T>G, XM_005270889.1:c.47T>G, XM_011541509.3:c.47T>G, XM_011541509.2:c.47T>G, XM_011541509.1:c.47T>G, NM_172164.1:c.47T>G, XP_005270945.1:p.Ile16Ser, XP_005270946.1:p.Ile16Ser, XP_011539811.1:p.Ile16Ser

Select item 14903803122.

rs1490380312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45604993 (GRCh38)
1:46070665 (GRCh37)
Canonical SPDI:: NC_000001.11:45604992:G:A
Gene:: NASP (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45604993G>A, NC_000001.10:g.46070665G>A, NG_029224.1:g.26006G>A, NM_002482.4:c.276G>A, NM_002482.3:c.276G>A, NM_152298.4:c.276G>A, NM_152298.3:c.276G>A, XM_005270888.4:c.282G>A, XM_005270888.3:c.282G>A, XM_005270888.2:c.282G>A, XM_005270888.1:c.282G>A, XM_005270889.4:c.282G>A, XM_005270889.3:c.282G>A, XM_005270889.2:c.282G>A, XM_005270889.1:c.282G>A, XM_011541509.3:c.282G>A, XM_011541509.2:c.282G>A, XM_011541509.1:c.282G>A, XM_017001356.3:c.276G>A, XM_017001356.2:c.276G>A, XM_017001356.1:c.276G>A, NM_172164.1:c.282G>A, XM_047421212.1:c.276G>A

Select item 14896949683.

rs1489694968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45615416 (GRCh38)
1:46081088 (GRCh37)
Canonical SPDI:: NC_000001.11:45615415:C:T
Gene:: NASP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.45615416C>T, NC_000001.10:g.46081088C>T, NG_029224.1:g.36429C>T, NM_002482.4:c.1967C>T, NM_002482.3:c.1967C>T, NM_152298.4:c.950C>T, NM_152298.3:c.950C>T, NM_001195193.2:c.1775C>T, NM_001195193.1:c.1775C>T, XM_005270888.4:c.1973C>T, XM_005270888.3:c.1973C>T, XM_005270888.2:c.1973C>T, XM_005270888.1:c.1973C>T, XM_005270889.4:c.956C>T, XM_005270889.3:c.956C>T, XM_005270889.2:c.956C>T, XM_005270889.1:c.956C>T, XM_011541509.3:c.1973C>T, XM_011541509.2:c.1973C>T, XM_011541509.1:c.1973C>T, XM_017001356.3:c.950C>T, XM_017001356.2:c.950C>T, XM_017001356.1:c.950C>T, NM_172164.1:c.1973C>T, XM_047421212.1:c.1967C>T, NP_002473.2:p.Ala656Val, NP_689511.2:p.Ala317Val, NP_001182122.1:p.Ala592Val, XP_005270945.1:p.Ala658Val, XP_005270946.1:p.Ala319Val, XP_011539811.1:p.Ala658Val, XP_016856845.1:p.Ala317Val, XP_047277168.1:p.Ala656Val

Select item 14895223404.

rs1489522340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45615119 (GRCh38)
1:46080791 (GRCh37)
Canonical SPDI:: NC_000001.11:45615118:C:T
Gene:: NASP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45615119C>T, NC_000001.10:g.46080791C>T, NG_029224.1:g.36132C>T, NM_002482.4:c.1773C>T, NM_002482.3:c.1773C>T, NM_152298.4:c.756C>T, NM_152298.3:c.756C>T, NM_001195193.2:c.1581C>T, NM_001195193.1:c.1581C>T, XM_005270888.4:c.1779C>T, XM_005270888.3:c.1779C>T, XM_005270888.2:c.1779C>T, XM_005270888.1:c.1779C>T, XM_005270889.4:c.762C>T, XM_005270889.3:c.762C>T, XM_005270889.2:c.762C>T, XM_005270889.1:c.762C>T, XM_011541509.3:c.1779C>T, XM_011541509.2:c.1779C>T, XM_011541509.1:c.1779C>T, XM_017001356.3:c.756C>T, XM_017001356.2:c.756C>T, XM_017001356.1:c.756C>T, NM_172164.1:c.1779C>T, XM_047421212.1:c.1773C>T

Select item 14884460115.

rs1488446011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:45616377 (GRCh38)
1:46082049 (GRCh37)
Canonical SPDI:: NC_000001.11:45616376:G:C,NC_000001.11:45616376:G:T
Gene:: NASP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.45616377G>C, NC_000001.11:g.45616377G>T, NC_000001.10:g.46082049G>C, NC_000001.10:g.46082049G>T, NG_029224.1:g.37390G>C, NG_029224.1:g.37390G>T, NM_002482.4:c.2063G>C, NM_002482.4:c.2063G>T, NM_002482.3:c.2063G>C, NM_002482.3:c.2063G>T, NM_152298.4:c.1046G>C, NM_152298.4:c.1046G>T, NM_152298.3:c.1046G>C, NM_152298.3:c.1046G>T, NM_001195193.2:c.1871G>C, NM_001195193.2:c.1871G>T, NM_001195193.1:c.1871G>C, NM_001195193.1:c.1871G>T, XM_005270888.4:c.2069G>C, XM_005270888.4:c.2069G>T, XM_005270888.3:c.2069G>C, XM_005270888.3:c.2069G>T, XM_005270888.2:c.2069G>C, XM_005270888.2:c.2069G>T, XM_005270888.1:c.2069G>C, XM_005270888.1:c.2069G>T, XM_005270889.4:c.1052G>C, XM_005270889.4:c.1052G>T, XM_005270889.3:c.1052G>C, XM_005270889.3:c.1052G>T, XM_005270889.2:c.1052G>C, XM_005270889.2:c.1052G>T, XM_005270889.1:c.1052G>C, XM_005270889.1:c.1052G>T, XM_011541509.3:c.2069G>C, XM_011541509.3:c.2069G>T, XM_011541509.2:c.2069G>C, XM_011541509.2:c.2069G>T, XM_011541509.1:c.2069G>C, XM_011541509.1:c.2069G>T, XM_017001356.3:c.1046G>C, XM_017001356.3:c.1046G>T, XM_017001356.2:c.1046G>C, XM_017001356.2:c.1046G>T, XM_017001356.1:c.1046G>C, XM_017001356.1:c.1046G>T, NM_172164.1:c.2069G>C, NM_172164.1:c.2069G>T, XM_047421212.1:c.2063G>C, XM_047421212.1:c.2063G>T, NP_002473.2:p.Gly688Ala, NP_002473.2:p.Gly688Val, NP_689511.2:p.Gly349Ala, NP_689511.2:p.Gly349Val, NP_001182122.1:p.Gly624Ala, NP_001182122.1:p.Gly624Val, XP_005270945.1:p.Gly690Ala, XP_005270945.1:p.Gly690Val, XP_005270946.1:p.Gly351Ala, XP_005270946.1:p.Gly351Val, XP_011539811.1:p.Gly690Ala, XP_011539811.1:p.Gly690Val, XP_016856845.1:p.Gly349Ala, XP_016856845.1:p.Gly349Val, XP_047277168.1:p.Gly688Ala, XP_047277168.1:p.Gly688Val

Select item 14857947096.

rs1485794709 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:45617515 (GRCh38)
1:46083187 (GRCh37)
Canonical SPDI:: NC_000001.11:45617514:AA:
Gene:: NASP (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45617515_45617516del, NC_000001.10:g.46083187_46083188del, NG_029224.1:g.38528_38529del, NM_002482.4:c.2210_2211del, NM_002482.3:c.2210_2211del, NM_152298.4:c.1193_1194del, NM_152298.3:c.1193_1194del, NM_001195193.2:c.2018_2019del, NM_001195193.1:c.2018_2019del, XM_005270888.4:c.2216_2217del, XM_005270888.3:c.2216_2217del, XM_005270888.2:c.2216_2217del, XM_005270888.1:c.2216_2217del, XM_005270889.4:c.1199_1200del, XM_005270889.3:c.1199_1200del, XM_005270889.2:c.1199_1200del, XM_005270889.1:c.1199_1200del, NM_172164.1:c.2216_2217del, NP_002473.2:p.Gln737fs, NP_689511.2:p.Gln398fs, NP_001182122.1:p.Gln673fs, XP_005270945.1:p.Gln739fs, XP_005270946.1:p.Gln400fs

Select item 14841533737.

rs1484153373 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 1:45606554 (GRCh38)
1:46072226 (GRCh37)
Canonical SPDI:: NC_000001.11:45606550:AGAAGA:AGA
Gene:: NASP (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45606551AGA[1], NC_000001.10:g.46072223AGA[1], NG_029224.1:g.27564AGA[1], NM_002482.4:c.369AGA[1], NM_002482.3:c.369AGA[1], NM_152298.4:c.369AGA[1], NM_152298.3:c.369AGA[1], NM_001195193.2:c.177AGA[1], NM_001195193.1:c.177AGA[1], XM_005270888.4:c.375AGA[1], XM_005270888.3:c.375AGA[1], XM_005270888.2:c.375AGA[1], XM_005270888.1:c.375AGA[1], XM_005270889.4:c.375AGA[1], XM_005270889.3:c.375AGA[1], XM_005270889.2:c.375AGA[1], XM_005270889.1:c.375AGA[1], XM_011541509.3:c.375AGA[1], XM_011541509.2:c.375AGA[1], XM_011541509.1:c.375AGA[1], XM_017001356.3:c.369AGA[1], XM_017001356.2:c.369AGA[1], XM_017001356.1:c.369AGA[1], NM_172164.1:c.375AGA[1], XM_047421212.1:c.369AGA[1], NP_002473.2:p.Glu124del, NP_689511.2:p.Glu124del, NP_001182122.1:p.Glu60del, XP_005270945.1:p.Glu126del, XP_005270946.1:p.Glu126del, XP_011539811.1:p.Glu126del, XP_016856845.1:p.Glu124del, XP_047277168.1:p.Glu124del

Select item 14833839898.

rs1483383989 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45616668 (GRCh38)
1:46082340 (GRCh37)
Canonical SPDI:: NC_000001.11:45616667:T:C
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45616668T>C, NC_000001.10:g.46082340T>C, NG_029224.1:g.37681T>C, NM_002482.4:c.2122T>C, NM_002482.3:c.2122T>C, NM_152298.4:c.1105T>C, NM_152298.3:c.1105T>C, NM_001195193.2:c.1930T>C, NM_001195193.1:c.1930T>C, XM_005270888.4:c.2128T>C, XM_005270888.3:c.2128T>C, XM_005270888.2:c.2128T>C, XM_005270888.1:c.2128T>C, XM_005270889.4:c.1111T>C, XM_005270889.3:c.1111T>C, XM_005270889.2:c.1111T>C, XM_005270889.1:c.1111T>C, XM_011541509.3:c.2128T>C, XM_011541509.2:c.2128T>C, XM_011541509.1:c.2128T>C, XM_017001356.3:c.1105T>C, XM_017001356.2:c.1105T>C, XM_017001356.1:c.1105T>C, NM_172164.1:c.2128T>C, XM_047421212.1:c.2122T>C, NP_002473.2:p.Cys708Arg, NP_689511.2:p.Cys369Arg, NP_001182122.1:p.Cys644Arg, XP_005270945.1:p.Cys710Arg, XP_005270946.1:p.Cys371Arg, XP_011539811.1:p.Cys710Arg, XP_016856845.1:p.Cys369Arg, XP_047277168.1:p.Cys708Arg

Select item 14811574569.

rs1481157456 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45615109 (GRCh38)
1:46080781 (GRCh37)
Canonical SPDI:: NC_000001.11:45615108:A:G
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.45615109A>G, NC_000001.10:g.46080781A>G, NG_029224.1:g.36122A>G, NM_002482.4:c.1763A>G, NM_002482.3:c.1763A>G, NM_152298.4:c.746A>G, NM_152298.3:c.746A>G, NM_001195193.2:c.1571A>G, NM_001195193.1:c.1571A>G, XM_005270888.4:c.1769A>G, XM_005270888.3:c.1769A>G, XM_005270888.2:c.1769A>G, XM_005270888.1:c.1769A>G, XM_005270889.4:c.752A>G, XM_005270889.3:c.752A>G, XM_005270889.2:c.752A>G, XM_005270889.1:c.752A>G, XM_011541509.3:c.1769A>G, XM_011541509.2:c.1769A>G, XM_011541509.1:c.1769A>G, XM_017001356.3:c.746A>G, XM_017001356.2:c.746A>G, XM_017001356.1:c.746A>G, NM_172164.1:c.1769A>G, XM_047421212.1:c.1763A>G, NP_002473.2:p.Tyr588Cys, NP_689511.2:p.Tyr249Cys, NP_001182122.1:p.Tyr524Cys, XP_005270945.1:p.Tyr590Cys, XP_005270946.1:p.Tyr251Cys, XP_011539811.1:p.Tyr590Cys, XP_016856845.1:p.Tyr249Cys, XP_047277168.1:p.Tyr588Cys

Select item 147752585210.

rs1477525852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:45615454 (GRCh38)
1:46081126 (GRCh37)
Canonical SPDI:: NC_000001.11:45615453:G:A,NC_000001.11:45615453:G:C
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45615454G>A, NC_000001.11:g.45615454G>C, NC_000001.10:g.46081126G>A, NC_000001.10:g.46081126G>C, NG_029224.1:g.36467G>A, NG_029224.1:g.36467G>C, NM_002482.4:c.2005G>A, NM_002482.4:c.2005G>C, NM_002482.3:c.2005G>A, NM_002482.3:c.2005G>C, NM_152298.4:c.988G>A, NM_152298.4:c.988G>C, NM_152298.3:c.988G>A, NM_152298.3:c.988G>C, NM_001195193.2:c.1813G>A, NM_001195193.2:c.1813G>C, NM_001195193.1:c.1813G>A, NM_001195193.1:c.1813G>C, XM_005270888.4:c.2011G>A, XM_005270888.4:c.2011G>C, XM_005270888.3:c.2011G>A, XM_005270888.3:c.2011G>C, XM_005270888.2:c.2011G>A, XM_005270888.2:c.2011G>C, XM_005270888.1:c.2011G>A, XM_005270888.1:c.2011G>C, XM_005270889.4:c.994G>A, XM_005270889.4:c.994G>C, XM_005270889.3:c.994G>A, XM_005270889.3:c.994G>C, XM_005270889.2:c.994G>A, XM_005270889.2:c.994G>C, XM_005270889.1:c.994G>A, XM_005270889.1:c.994G>C, XM_011541509.3:c.2011G>A, XM_011541509.3:c.2011G>C, XM_011541509.2:c.2011G>A, XM_011541509.2:c.2011G>C, XM_011541509.1:c.2011G>A, XM_011541509.1:c.2011G>C, XM_017001356.3:c.988G>A, XM_017001356.3:c.988G>C, XM_017001356.2:c.988G>A, XM_017001356.2:c.988G>C, XM_017001356.1:c.988G>A, XM_017001356.1:c.988G>C, NM_172164.1:c.2011G>A, NM_172164.1:c.2011G>C, XM_047421212.1:c.2005G>A, XM_047421212.1:c.2005G>C, NP_002473.2:p.Ala669Thr, NP_002473.2:p.Ala669Pro, NP_689511.2:p.Ala330Thr, NP_689511.2:p.Ala330Pro, NP_001182122.1:p.Ala605Thr, NP_001182122.1:p.Ala605Pro, XP_005270945.1:p.Ala671Thr, XP_005270945.1:p.Ala671Pro, XP_005270946.1:p.Ala332Thr, XP_005270946.1:p.Ala332Pro, XP_011539811.1:p.Ala671Thr, XP_011539811.1:p.Ala671Pro, XP_016856845.1:p.Ala330Thr, XP_016856845.1:p.Ala330Pro, XP_047277168.1:p.Ala669Thr, XP_047277168.1:p.Ala669Pro

Select item 146962897211.

rs1469628972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45606588 (GRCh38)
1:46072260 (GRCh37)
Canonical SPDI:: NC_000001.11:45606587:G:A
Gene:: NASP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.45606588G>A, NC_000001.10:g.46072260G>A, NG_029224.1:g.27601G>A, NM_002482.4:c.406G>A, NM_002482.3:c.406G>A, NM_152298.4:c.406G>A, NM_152298.3:c.406G>A, NM_001195193.2:c.214G>A, NM_001195193.1:c.214G>A, XM_005270888.4:c.412G>A, XM_005270888.3:c.412G>A, XM_005270888.2:c.412G>A, XM_005270888.1:c.412G>A, XM_005270889.4:c.412G>A, XM_005270889.3:c.412G>A, XM_005270889.2:c.412G>A, XM_005270889.1:c.412G>A, XM_011541509.3:c.412G>A, XM_011541509.2:c.412G>A, XM_011541509.1:c.412G>A, XM_017001356.3:c.406G>A, XM_017001356.2:c.406G>A, XM_017001356.1:c.406G>A, NM_172164.1:c.412G>A, XM_047421212.1:c.406G>A, NP_002473.2:p.Asp136Asn, NP_689511.2:p.Asp136Asn, NP_001182122.1:p.Asp72Asn, XP_005270945.1:p.Asp138Asn, XP_005270946.1:p.Asp138Asn, XP_011539811.1:p.Asp138Asn, XP_016856845.1:p.Asp136Asn, XP_047277168.1:p.Asp136Asn

Select item 146723089112.

rs1467230891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:45618074 (GRCh38)
1:46083746 (GRCh37)
Canonical SPDI:: NC_000001.11:45618073:C:G
Gene:: NASP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.45618074C>G, NC_000001.10:g.46083746C>G, NG_029224.1:g.39087C>G, NM_002482.4:c.2300C>G, NM_002482.3:c.2300C>G, NM_152298.4:c.1283C>G, NM_152298.3:c.1283C>G, NM_001195193.2:c.2108C>G, NM_001195193.1:c.2108C>G, XM_005270888.4:c.2306C>G, XM_005270888.3:c.2306C>G, XM_005270888.2:c.2306C>G, XM_005270888.1:c.2306C>G, XM_005270889.4:c.1289C>G, XM_005270889.3:c.1289C>G, XM_005270889.2:c.1289C>G, XM_005270889.1:c.1289C>G, XM_011541509.3:c.2177C>G, XM_011541509.2:c.2177C>G, XM_011541509.1:c.2177C>G, XM_017001356.3:c.1154C>G, XM_017001356.2:c.1154C>G, XM_017001356.1:c.1154C>G, NM_172164.1:c.2306C>G, XM_047421212.1:c.2171C>G, NP_002473.2:p.Ala767Gly, NP_689511.2:p.Ala428Gly, NP_001182122.1:p.Ala703Gly, XP_005270945.1:p.Ala769Gly, XP_005270946.1:p.Ala430Gly, XP_011539811.1:p.Ala726Gly, XP_016856845.1:p.Ala385Gly, XP_047277168.1:p.Ala724Gly

Select item 146555428913.

rs1465554289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:45606492 (GRCh38)
1:46072164 (GRCh37)
Canonical SPDI:: NC_000001.11:45606491:G:C
Gene:: NASP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45606492G>C, NC_000001.10:g.46072164G>C, NG_029224.1:g.27505G>C, NM_002482.4:c.310G>C, NM_002482.3:c.310G>C, NM_152298.4:c.310G>C, NM_152298.3:c.310G>C, NM_001195193.2:c.118G>C, NM_001195193.1:c.118G>C, XM_005270888.4:c.316G>C, XM_005270888.3:c.316G>C, XM_005270888.2:c.316G>C, XM_005270888.1:c.316G>C, XM_005270889.4:c.316G>C, XM_005270889.3:c.316G>C, XM_005270889.2:c.316G>C, XM_005270889.1:c.316G>C, XM_011541509.3:c.316G>C, XM_011541509.2:c.316G>C, XM_011541509.1:c.316G>C, XM_017001356.3:c.310G>C, XM_017001356.2:c.310G>C, XM_017001356.1:c.310G>C, NM_172164.1:c.316G>C, XM_047421212.1:c.310G>C, NP_002473.2:p.Gly104Arg, NP_689511.2:p.Gly104Arg, NP_001182122.1:p.Gly40Arg, XP_005270945.1:p.Gly106Arg, XP_005270946.1:p.Gly106Arg, XP_011539811.1:p.Gly106Arg, XP_016856845.1:p.Gly104Arg, XP_047277168.1:p.Gly104Arg

Select item 146482842314.

rs1464828423 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45615026 (GRCh38)
1:46080698 (GRCh37)
Canonical SPDI:: NC_000001.11:45615025:A:G
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.45615026A>G, NC_000001.10:g.46080698A>G, NG_029224.1:g.36039A>G, NM_002482.4:c.1680A>G, NM_002482.3:c.1680A>G, NM_152298.4:c.663A>G, NM_152298.3:c.663A>G, NM_001195193.2:c.1488A>G, NM_001195193.1:c.1488A>G, XM_005270888.4:c.1686A>G, XM_005270888.3:c.1686A>G, XM_005270888.2:c.1686A>G, XM_005270888.1:c.1686A>G, XM_005270889.4:c.669A>G, XM_005270889.3:c.669A>G, XM_005270889.2:c.669A>G, XM_005270889.1:c.669A>G, XM_011541509.3:c.1686A>G, XM_011541509.2:c.1686A>G, XM_011541509.1:c.1686A>G, XM_017001356.3:c.663A>G, XM_017001356.2:c.663A>G, XM_017001356.1:c.663A>G, NM_172164.1:c.1686A>G, XM_047421212.1:c.1680A>G

Select item 145829850115.

rs1458298501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45616660 (GRCh38)
1:46082332 (GRCh37)
Canonical SPDI:: NC_000001.11:45616659:C:T
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.45616660C>T, NC_000001.10:g.46082332C>T, NG_029224.1:g.37673C>T, NM_002482.4:c.2114C>T, NM_002482.3:c.2114C>T, NM_152298.4:c.1097C>T, NM_152298.3:c.1097C>T, NM_001195193.2:c.1922C>T, NM_001195193.1:c.1922C>T, XM_005270888.4:c.2120C>T, XM_005270888.3:c.2120C>T, XM_005270888.2:c.2120C>T, XM_005270888.1:c.2120C>T, XM_005270889.4:c.1103C>T, XM_005270889.3:c.1103C>T, XM_005270889.2:c.1103C>T, XM_005270889.1:c.1103C>T, XM_011541509.3:c.2120C>T, XM_011541509.2:c.2120C>T, XM_011541509.1:c.2120C>T, XM_017001356.3:c.1097C>T, XM_017001356.2:c.1097C>T, XM_017001356.1:c.1097C>T, NM_172164.1:c.2120C>T, XM_047421212.1:c.2114C>T, NP_002473.2:p.Ser705Leu, NP_689511.2:p.Ser366Leu, NP_001182122.1:p.Ser641Leu, XP_005270945.1:p.Ser707Leu, XP_005270946.1:p.Ser368Leu, XP_011539811.1:p.Ser707Leu, XP_016856845.1:p.Ser366Leu, XP_047277168.1:p.Ser705Leu

Select item 145651761516.

rs1456517615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45600453 (GRCh38)
1:46066125 (GRCh37)
Canonical SPDI:: NC_000001.11:45600452:A:G
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000001.11:g.45600453A>G, NC_000001.10:g.46066125A>G, NG_029224.1:g.21466A>G, XM_005270888.4:c.109A>G, XM_005270888.3:c.109A>G, XM_005270888.2:c.109A>G, XM_005270888.1:c.109A>G, XM_005270889.4:c.109A>G, XM_005270889.3:c.109A>G, XM_005270889.2:c.109A>G, XM_005270889.1:c.109A>G, XM_011541509.3:c.109A>G, XM_011541509.2:c.109A>G, XM_011541509.1:c.109A>G, NM_172164.1:c.109A>G, XP_005270945.1:p.Ile37Val, XP_005270946.1:p.Ile37Val, XP_011539811.1:p.Ile37Val

Select item 145318786817.

rs1453187868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45615344 (GRCh38)
1:46081016 (GRCh37)
Canonical SPDI:: NC_000001.11:45615343:C:T
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.45615344C>T, NC_000001.10:g.46081016C>T, NG_029224.1:g.36357C>T, NM_002482.4:c.1895C>T, NM_002482.3:c.1895C>T, NM_152298.4:c.878C>T, NM_152298.3:c.878C>T, NM_001195193.2:c.1703C>T, NM_001195193.1:c.1703C>T, XM_005270888.4:c.1901C>T, XM_005270888.3:c.1901C>T, XM_005270888.2:c.1901C>T, XM_005270888.1:c.1901C>T, XM_005270889.4:c.884C>T, XM_005270889.3:c.884C>T, XM_005270889.2:c.884C>T, XM_005270889.1:c.884C>T, XM_011541509.3:c.1901C>T, XM_011541509.2:c.1901C>T, XM_011541509.1:c.1901C>T, XM_017001356.3:c.878C>T, XM_017001356.2:c.878C>T, XM_017001356.1:c.878C>T, NM_172164.1:c.1901C>T, XM_047421212.1:c.1895C>T, NP_002473.2:p.Ser632Phe, NP_689511.2:p.Ser293Phe, NP_001182122.1:p.Ser568Phe, XP_005270945.1:p.Ser634Phe, XP_005270946.1:p.Ser295Phe, XP_011539811.1:p.Ser634Phe, XP_016856845.1:p.Ser293Phe, XP_047277168.1:p.Ser632Phe

Select item 145056205418.

rs1450562054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45614108 (GRCh38)
1:46079780 (GRCh37)
Canonical SPDI:: NC_000001.11:45614107:A:G
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45614108A>G, NC_000001.10:g.46079780A>G, NG_029224.1:g.35121A>G, NM_002482.4:c.1519A>G, NM_002482.3:c.1519A>G, NM_152298.4:c.502A>G, NM_152298.3:c.502A>G, NM_001195193.2:c.1327A>G, NM_001195193.1:c.1327A>G, XM_005270888.4:c.1525A>G, XM_005270888.3:c.1525A>G, XM_005270888.2:c.1525A>G, XM_005270888.1:c.1525A>G, XM_005270889.4:c.508A>G, XM_005270889.3:c.508A>G, XM_005270889.2:c.508A>G, XM_005270889.1:c.508A>G, XM_011541509.3:c.1525A>G, XM_011541509.2:c.1525A>G, XM_011541509.1:c.1525A>G, XM_017001356.3:c.502A>G, XM_017001356.2:c.502A>G, XM_017001356.1:c.502A>G, NM_172164.1:c.1525A>G, XM_047421212.1:c.1519A>G, NP_002473.2:p.Asn507Asp, NP_689511.2:p.Asn168Asp, NP_001182122.1:p.Asn443Asp, XP_005270945.1:p.Asn509Asp, XP_005270946.1:p.Asn170Asp, XP_011539811.1:p.Asn509Asp, XP_016856845.1:p.Asn168Asp, XP_047277168.1:p.Asn507Asp

Select item 144678695519.

rs1446786955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:45615051 (GRCh38)
1:46080724 (GRCh37)
Canonical SPDI:: NC_000001.11:45615051:TT:TTT
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000001.11:g.45615053dup, NC_000001.10:g.46080725dup, NG_029224.1:g.36066dup, NM_002482.4:c.1707dup, NM_002482.3:c.1707dup, NM_152298.4:c.690dup, NM_152298.3:c.690dup, NM_001195193.2:c.1515dup, NM_001195193.1:c.1515dup, XM_005270888.4:c.1713dup, XM_005270888.3:c.1713dup, XM_005270888.2:c.1713dup, XM_005270888.1:c.1713dup, XM_005270889.4:c.696dup, XM_005270889.3:c.696dup, XM_005270889.2:c.696dup, XM_005270889.1:c.696dup, XM_011541509.3:c.1713dup, XM_011541509.2:c.1713dup, XM_011541509.1:c.1713dup, XM_017001356.3:c.690dup, XM_017001356.2:c.690dup, XM_017001356.1:c.690dup, NM_172164.1:c.1713dup, XM_047421212.1:c.1707dup, NP_002473.2:p.Asn570Ter, NP_689511.2:p.Asn231Ter, NP_001182122.1:p.Asn506Ter, XP_005270945.1:p.Asn572Ter, XP_005270946.1:p.Asn233Ter, XP_011539811.1:p.Asn572Ter, XP_016856845.1:p.Asn231Ter, XP_047277168.1:p.Asn570Ter

Select item 144338490020.

rs1443384900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45615330 (GRCh38)
1:46081002 (GRCh37)
Canonical SPDI:: NC_000001.11:45615329:G:A
Gene:: NASP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45615330G>A, NC_000001.10:g.46081002G>A, NG_029224.1:g.36343G>A, NM_002482.4:c.1881G>A, NM_002482.3:c.1881G>A, NM_152298.4:c.864G>A, NM_152298.3:c.864G>A, NM_001195193.2:c.1689G>A, NM_001195193.1:c.1689G>A, XM_005270888.4:c.1887G>A, XM_005270888.3:c.1887G>A, XM_005270888.2:c.1887G>A, XM_005270888.1:c.1887G>A, XM_005270889.4:c.870G>A, XM_005270889.3:c.870G>A, XM_005270889.2:c.870G>A, XM_005270889.1:c.870G>A, XM_011541509.3:c.1887G>A, XM_011541509.2:c.1887G>A, XM_011541509.1:c.1887G>A, XM_017001356.3:c.864G>A, XM_017001356.2:c.864G>A, XM_017001356.1:c.864G>A, NM_172164.1:c.1887G>A, XM_047421212.1:c.1881G>A

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 348

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 348

Page of 18

Page of 18

Display Settings:

Supplemental Content

Find related data

Recent activity