SNP Links for Protein (Select 213021148) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 597

<< First< Prev

Page of 30

Select item 14895166431.

rs1489516643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138627404 (GRCh38)
7:138312149 (GRCh37)
Canonical SPDI:: NC_000007.14:138627403:A:G
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138627404A>G, NC_000007.13:g.138312149A>G, NG_051552.1:g.79144T>C, NM_174959.3:c.671T>C, NM_174959.2:c.671T>C, NM_001139456.2:c.1127T>C, NM_001139456.1:c.1127T>C, NM_001331192.1:c.854T>C, XM_011515797.3:c.671T>C, XM_011515797.2:c.671T>C, XM_011515797.1:c.671T>C, XM_024446654.2:c.854T>C, XM_024446654.1:c.854T>C, XM_024446655.2:c.854T>C, XM_024446655.1:c.854T>C, XM_017011747.2:c.671T>C, XM_017011747.1:c.671T>C, XM_017011748.2:c.671T>C, XM_017011748.1:c.671T>C, XM_047419887.1:c.854T>C, XM_047419888.1:c.671T>C, NP_777619.1:p.Ile224Thr, NP_001132928.1:p.Ile376Thr, NP_001318121.1:p.Ile285Thr, XP_011514099.1:p.Ile224Thr, XP_024302422.1:p.Ile285Thr, XP_024302423.1:p.Ile285Thr, XP_016867236.1:p.Ile224Thr, XP_016867237.1:p.Ile224Thr, XP_047275843.1:p.Ile285Thr, XP_047275844.1:p.Ile224Thr

Select item 14823468752.

rs1482346875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:138627426 (GRCh38)
7:138312171 (GRCh37)
Canonical SPDI:: NC_000007.14:138627425:C:T
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138627426C>T, NC_000007.13:g.138312171C>T, NG_051552.1:g.79122G>A, NM_174959.3:c.649G>A, NM_174959.2:c.649G>A, NM_001139456.2:c.1105G>A, NM_001139456.1:c.1105G>A, NM_001331192.1:c.832G>A, XM_011515797.3:c.649G>A, XM_011515797.2:c.649G>A, XM_011515797.1:c.649G>A, XM_024446654.2:c.832G>A, XM_024446654.1:c.832G>A, XM_024446655.2:c.832G>A, XM_024446655.1:c.832G>A, XM_017011747.2:c.649G>A, XM_017011747.1:c.649G>A, XM_017011748.2:c.649G>A, XM_017011748.1:c.649G>A, XM_047419887.1:c.832G>A, XM_047419888.1:c.649G>A, NP_777619.1:p.Gly217Arg, NP_001132928.1:p.Gly369Arg, NP_001318121.1:p.Gly278Arg, XP_011514099.1:p.Gly217Arg, XP_024302422.1:p.Gly278Arg, XP_024302423.1:p.Gly278Arg, XP_016867236.1:p.Gly217Arg, XP_016867237.1:p.Gly217Arg, XP_047275843.1:p.Gly278Arg, XP_047275844.1:p.Gly217Arg

Select item 14796293213.

rs1479629321 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:138659898 (GRCh38)
7:138344643 (GRCh37)
Canonical SPDI:: NC_000007.14:138659897:T:A
Gene:: SVOPL (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138659898T>A, NC_000007.13:g.138344643T>A, NG_051552.1:g.46650A>T, NM_001139456.2:c.436A>T, NM_001139456.1:c.436A>T, NM_001331192.1:c.163A>T, XM_024446654.2:c.163A>T, XM_024446654.1:c.163A>T, XM_024446655.2:c.163A>T, XM_024446655.1:c.163A>T, XM_047419887.1:c.163A>T, NP_001132928.1:p.Met146Leu, NP_001318121.1:p.Met55Leu, XP_024302422.1:p.Met55Leu, XP_024302423.1:p.Met55Leu, XP_047275843.1:p.Met55Leu

Select item 14793295644.

rs1479329564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138627391 (GRCh38)
7:138312136 (GRCh37)
Canonical SPDI:: NC_000007.14:138627390:G:A
Gene:: SVOPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138627391G>A, NC_000007.13:g.138312136G>A, NG_051552.1:g.79157C>T, NM_174959.3:c.684C>T, NM_174959.2:c.684C>T, NM_001139456.2:c.1140C>T, NM_001139456.1:c.1140C>T, NM_001331192.1:c.867C>T, XM_011515797.3:c.684C>T, XM_011515797.2:c.684C>T, XM_011515797.1:c.684C>T, XM_024446654.2:c.867C>T, XM_024446654.1:c.867C>T, XM_024446655.2:c.867C>T, XM_024446655.1:c.867C>T, XM_017011747.2:c.684C>T, XM_017011747.1:c.684C>T, XM_017011748.2:c.684C>T, XM_017011748.1:c.684C>T, XM_047419887.1:c.867C>T, XM_047419888.1:c.684C>T

Select item 14774567165.

rs1477456716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:138627434 (GRCh38)
7:138312179 (GRCh37)
Canonical SPDI:: NC_000007.14:138627433:T:C
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138627434T>C, NC_000007.13:g.138312179T>C, NG_051552.1:g.79114A>G, NM_174959.3:c.641A>G, NM_174959.2:c.641A>G, NM_001139456.2:c.1097A>G, NM_001139456.1:c.1097A>G, NM_001331192.1:c.824A>G, XM_011515797.3:c.641A>G, XM_011515797.2:c.641A>G, XM_011515797.1:c.641A>G, XM_024446654.2:c.824A>G, XM_024446654.1:c.824A>G, XM_024446655.2:c.824A>G, XM_024446655.1:c.824A>G, XM_017011747.2:c.641A>G, XM_017011747.1:c.641A>G, XM_017011748.2:c.641A>G, XM_017011748.1:c.641A>G, XM_047419887.1:c.824A>G, XM_047419888.1:c.641A>G, NP_777619.1:p.Asn214Ser, NP_001132928.1:p.Asn366Ser, NP_001318121.1:p.Asn275Ser, XP_011514099.1:p.Asn214Ser, XP_024302422.1:p.Asn275Ser, XP_024302423.1:p.Asn275Ser, XP_016867236.1:p.Asn214Ser, XP_016867237.1:p.Asn214Ser, XP_047275843.1:p.Asn275Ser, XP_047275844.1:p.Asn214Ser

Select item 14756982356.

rs1475698235 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:138679036 (GRCh38)
7:138363781 (GRCh37)
Canonical SPDI:: NC_000007.14:138679035:T:A
Gene:: SVOPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138679036T>A, NC_000007.13:g.138363781T>A, NG_051552.1:g.27512A>T, NM_001139456.2:c.10A>T, NM_001139456.1:c.10A>T, NP_001132928.1:p.Lys4Ter

Select item 14741635777.

rs1474163577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138656477 (GRCh38)
7:138341222 (GRCh37)
Canonical SPDI:: NC_000007.14:138656476:A:G
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138656477A>G, NC_000007.13:g.138341222A>G, NG_051552.1:g.50071T>C, NM_174959.3:c.49T>C, NM_174959.2:c.49T>C, NM_001139456.2:c.505T>C, NM_001139456.1:c.505T>C, NM_001331192.1:c.232T>C, XM_011515797.3:c.49T>C, XM_011515797.2:c.49T>C, XM_011515797.1:c.49T>C, XM_024446654.2:c.232T>C, XM_024446654.1:c.232T>C, XM_024446655.2:c.232T>C, XM_024446655.1:c.232T>C, XM_017011747.2:c.49T>C, XM_017011747.1:c.49T>C, XM_017011748.2:c.49T>C, XM_017011748.1:c.49T>C, XM_047419887.1:c.232T>C, XM_047419888.1:c.49T>C, NP_777619.1:p.Tyr17His, NP_001132928.1:p.Tyr169His, NP_001318121.1:p.Tyr78His, XP_011514099.1:p.Tyr17His, XP_024302422.1:p.Tyr78His, XP_024302423.1:p.Tyr78His, XP_016867236.1:p.Tyr17His, XP_016867237.1:p.Tyr17His, XP_047275843.1:p.Tyr78His, XP_047275844.1:p.Tyr17His

Select item 14721736218.

rs1472173621 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:138628232 (GRCh38)
7:138312977 (GRCh37)
Canonical SPDI:: NC_000007.14:138628231:C:T
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138628232C>T, NC_000007.13:g.138312977C>T, NG_051552.1:g.78316G>A, NM_174959.3:c.539G>A, NM_174959.2:c.539G>A, NM_001139456.2:c.995G>A, NM_001139456.1:c.995G>A, NM_001331192.1:c.722G>A, XM_011515797.3:c.539G>A, XM_011515797.2:c.539G>A, XM_011515797.1:c.539G>A, XM_024446654.2:c.722G>A, XM_024446654.1:c.722G>A, XM_024446655.2:c.722G>A, XM_024446655.1:c.722G>A, XM_017011747.2:c.539G>A, XM_017011747.1:c.539G>A, XM_017011748.2:c.539G>A, XM_017011748.1:c.539G>A, XM_047419887.1:c.722G>A, XM_047419888.1:c.539G>A, NP_777619.1:p.Ser180Asn, NP_001132928.1:p.Ser332Asn, NP_001318121.1:p.Ser241Asn, XP_011514099.1:p.Ser180Asn, XP_024302422.1:p.Ser241Asn, XP_024302423.1:p.Ser241Asn, XP_016867236.1:p.Ser180Asn, XP_016867237.1:p.Ser180Asn, XP_047275843.1:p.Ser241Asn, XP_047275844.1:p.Ser180Asn

Select item 14710394149.

rs1471039414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:138628167 (GRCh38)
7:138312912 (GRCh37)
Canonical SPDI:: NC_000007.14:138628166:C:A
Gene:: SVOPL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138628167C>A, NC_000007.13:g.138312912C>A, NG_051552.1:g.78381G>T, NM_174959.3:c.604G>T, NM_174959.2:c.604G>T, NM_001139456.2:c.1060G>T, NM_001139456.1:c.1060G>T, NM_001331192.1:c.787G>T, XM_011515797.3:c.604G>T, XM_011515797.2:c.604G>T, XM_011515797.1:c.604G>T, XM_024446654.2:c.787G>T, XM_024446654.1:c.787G>T, XM_024446655.2:c.787G>T, XM_024446655.1:c.787G>T, XM_017011747.2:c.604G>T, XM_017011747.1:c.604G>T, XM_017011748.2:c.604G>T, XM_017011748.1:c.604G>T, XM_047419887.1:c.787G>T, XM_047419888.1:c.604G>T, NP_777619.1:p.Glu202Ter, NP_001132928.1:p.Glu354Ter, NP_001318121.1:p.Glu263Ter, XP_011514099.1:p.Glu202Ter, XP_024302422.1:p.Glu263Ter, XP_024302423.1:p.Glu263Ter, XP_016867236.1:p.Glu202Ter, XP_016867237.1:p.Glu202Ter, XP_047275843.1:p.Glu263Ter, XP_047275844.1:p.Glu202Ter

Select item 147012276410.

rs1470122764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138659973 (GRCh38)
7:138344718 (GRCh37)
Canonical SPDI:: NC_000007.14:138659972:A:G
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.138659973A>G, NC_000007.13:g.138344718A>G, NG_051552.1:g.46575T>C, NM_001139456.2:c.361T>C, NM_001139456.1:c.361T>C, NM_001331192.1:c.88T>C, XM_024446654.2:c.88T>C, XM_024446654.1:c.88T>C, XM_024446655.2:c.88T>C, XM_024446655.1:c.88T>C, XM_047419887.1:c.88T>C, NP_001132928.1:p.Phe121Leu, NP_001318121.1:p.Phe30Leu, XP_024302422.1:p.Phe30Leu, XP_024302423.1:p.Phe30Leu, XP_047275843.1:p.Phe30Leu

Select item 146813202511.

rs1468132025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:138644836 (GRCh38)
7:138329581 (GRCh37)
Canonical SPDI:: NC_000007.14:138644835:C:G
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138644836C>G, NC_000007.13:g.138329581C>G, NG_051552.1:g.61712G>C, NM_174959.3:c.214G>C, NM_174959.2:c.214G>C, NM_001139456.2:c.670G>C, NM_001139456.1:c.670G>C, NM_001331192.1:c.397G>C, XM_011515797.3:c.214G>C, XM_011515797.2:c.214G>C, XM_011515797.1:c.214G>C, XM_024446654.2:c.397G>C, XM_024446654.1:c.397G>C, XM_024446655.2:c.397G>C, XM_024446655.1:c.397G>C, XM_017011747.2:c.214G>C, XM_017011747.1:c.214G>C, XM_017011748.2:c.214G>C, XM_017011748.1:c.214G>C, XM_047419887.1:c.397G>C, XM_047419888.1:c.214G>C, NP_777619.1:p.Glu72Gln, NP_001132928.1:p.Glu224Gln, NP_001318121.1:p.Glu133Gln, XP_011514099.1:p.Glu72Gln, XP_024302422.1:p.Glu133Gln, XP_024302423.1:p.Glu133Gln, XP_016867236.1:p.Glu72Gln, XP_016867237.1:p.Glu72Gln, XP_047275843.1:p.Glu133Gln, XP_047275844.1:p.Glu72Gln

Select item 145977402712.

rs1459774027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:138630071 (GRCh38)
7:138314816 (GRCh37)
Canonical SPDI:: NC_000007.14:138630070:T:C
Gene:: SVOPL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.138630071T>C, NC_000007.13:g.138314816T>C, NG_051552.1:g.76477A>G, NM_174959.3:c.385A>G, NM_174959.2:c.385A>G, NM_001139456.2:c.841A>G, NM_001139456.1:c.841A>G, NM_001331192.1:c.568A>G, XM_011515797.3:c.385A>G, XM_011515797.2:c.385A>G, XM_011515797.1:c.385A>G, XM_024446654.2:c.568A>G, XM_024446654.1:c.568A>G, XM_024446655.2:c.568A>G, XM_024446655.1:c.568A>G, XM_017011747.2:c.385A>G, XM_017011747.1:c.385A>G, XM_017011748.2:c.385A>G, XM_017011748.1:c.385A>G, XM_047419887.1:c.568A>G, XM_047419888.1:c.385A>G, NP_777619.1:p.Thr129Ala, NP_001132928.1:p.Thr281Ala, NP_001318121.1:p.Thr190Ala, XP_011514099.1:p.Thr129Ala, XP_024302422.1:p.Thr190Ala, XP_024302423.1:p.Thr190Ala, XP_016867236.1:p.Thr129Ala, XP_016867237.1:p.Thr129Ala, XP_047275843.1:p.Thr190Ala, XP_047275844.1:p.Thr129Ala

Select item 145949416113.

rs1459494161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:138672074 (GRCh38)
7:138356819 (GRCh37)
Canonical SPDI:: NC_000007.14:138672073:G:A
Gene:: SVOPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.000354/6 (TOMMO)
HGVS:: NC_000007.14:g.138672074G>A, NC_000007.13:g.138356819G>A, NG_051552.1:g.34474C>T, NM_001139456.2:c.218C>T, NM_001139456.1:c.218C>T, XM_011515797.3:c.-114C>T, XM_011515797.2:c.-114C>T, XM_011515797.1:c.-114C>T, NP_001132928.1:p.Pro73Leu

Select item 145878643014.

rs1458786430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:138659968 (GRCh38)
7:138344713 (GRCh37)
Canonical SPDI:: NC_000007.14:138659967:C:T
Gene:: SVOPL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.138659968C>T, NC_000007.13:g.138344713C>T, NG_051552.1:g.46580G>A, NM_001139456.2:c.366G>A, NM_001139456.1:c.366G>A, NM_001331192.1:c.93G>A, XM_024446654.2:c.93G>A, XM_024446654.1:c.93G>A, XM_024446655.2:c.93G>A, XM_024446655.1:c.93G>A, XM_047419887.1:c.93G>A

Select item 145848319515.

rs1458483195 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:138630112 (GRCh38)
7:138314857 (GRCh37)
Canonical SPDI:: NC_000007.14:138630111:CC:C
Gene:: SVOPL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.138630113del, NC_000007.13:g.138314858del, NG_051552.1:g.76436del, NM_174959.3:c.344del, NM_174959.2:c.344del, NM_001139456.2:c.800del, NM_001139456.1:c.800del, NM_001331192.1:c.527del, XM_011515797.3:c.344del, XM_011515797.2:c.344del, XM_011515797.1:c.344del, XM_024446654.2:c.527del, XM_024446654.1:c.527del, XM_024446655.2:c.527del, XM_024446655.1:c.527del, XM_017011747.2:c.344del, XM_017011747.1:c.344del, XM_017011748.2:c.344del, XM_017011748.1:c.344del, XM_047419887.1:c.527del, XM_047419888.1:c.344del, NP_777619.1:p.Gly115fs, NP_001132928.1:p.Gly267fs, NP_001318121.1:p.Gly176fs, XP_011514099.1:p.Gly115fs, XP_024302422.1:p.Gly176fs, XP_024302423.1:p.Gly176fs, XP_016867236.1:p.Gly115fs, XP_016867237.1:p.Gly115fs, XP_047275843.1:p.Gly176fs, XP_047275844.1:p.Gly115fs

Select item 145630557616.

rs1456305576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:138621135 (GRCh38)
7:138305880 (GRCh37)
Canonical SPDI:: NC_000007.14:138621134:C:T
Gene:: SVOPL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138621135C>T, NC_000007.13:g.138305880C>T, NG_051552.1:g.85413G>A, NM_174959.3:c.808G>A, NM_174959.2:c.808G>A, NM_001139456.2:c.1264G>A, NM_001139456.1:c.1264G>A, NM_001331192.1:c.991G>A, XM_011515797.3:c.808G>A, XM_011515797.2:c.808G>A, XM_011515797.1:c.808G>A, XM_024446654.2:c.991G>A, XM_024446654.1:c.991G>A, XM_024446655.2:c.991G>A, XM_024446655.1:c.991G>A, XM_017011747.2:c.808G>A, XM_017011747.1:c.808G>A, XM_017011748.2:c.808G>A, XM_017011748.1:c.808G>A, NP_777619.1:p.Val270Ile, NP_001132928.1:p.Val422Ile, NP_001318121.1:p.Val331Ile, XP_011514099.1:p.Val270Ile, XP_024302422.1:p.Val331Ile, XP_024302423.1:p.Val331Ile, XP_016867236.1:p.Val270Ile, XP_016867237.1:p.Val270Ile

Select item 145450591917.

rs1454505919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138626039 (GRCh38)
7:138310784 (GRCh37)
Canonical SPDI:: NC_000007.14:138626038:A:G
Gene:: SVOPL (Varview), LOC124900246 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.138626039A>G, NC_000007.13:g.138310784A>G, NG_051552.1:g.80509T>C, NM_174959.3:c.737T>C, NM_174959.2:c.737T>C, NM_001139456.2:c.1193T>C, NM_001139456.1:c.1193T>C, NM_001331192.1:c.920T>C, XM_011515797.3:c.737T>C, XM_011515797.2:c.737T>C, XM_011515797.1:c.737T>C, XM_024446654.2:c.920T>C, XM_024446654.1:c.920T>C, XM_024446655.2:c.920T>C, XM_024446655.1:c.920T>C, XM_017011747.2:c.737T>C, XM_017011747.1:c.737T>C, XM_017011748.2:c.737T>C, XM_017011748.1:c.737T>C, XM_047419887.1:c.920T>C, XM_047419888.1:c.737T>C, NP_777619.1:p.Ile246Thr, NP_001132928.1:p.Ile398Thr, NP_001318121.1:p.Ile307Thr, XP_011514099.1:p.Ile246Thr, XP_024302422.1:p.Ile307Thr, XP_024302423.1:p.Ile307Thr, XP_016867236.1:p.Ile246Thr, XP_016867237.1:p.Ile246Thr, XP_047275843.1:p.Ile307Thr, XP_047275844.1:p.Ile246Thr

Select item 145431753818.

rs1454317538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:138678513 (GRCh38)
7:138363258 (GRCh37)
Canonical SPDI:: NC_000007.14:138678512:A:G
Gene:: SVOPL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.138678513A>G, NC_000007.13:g.138363258A>G, NG_051552.1:g.28035T>C, NM_001139456.2:c.95T>C, NM_001139456.1:c.95T>C, NP_001132928.1:p.Phe32Ser

Select item 145293271219.

rs1452932712 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:138627390 (GRCh38)
7:138312135 (GRCh37)
Canonical SPDI:: NC_000007.14:138627389:T:C
Gene:: SVOPL (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_000007.14:g.138627390T>C, NC_000007.13:g.138312135T>C, NG_051552.1:g.79158A>G, NM_174959.3:c.685A>G, NM_174959.2:c.685A>G, NM_001139456.2:c.1141A>G, NM_001139456.1:c.1141A>G, NM_001331192.1:c.868A>G, XM_011515797.3:c.685A>G, XM_011515797.2:c.685A>G, XM_011515797.1:c.685A>G, XM_024446654.2:c.868A>G, XM_024446654.1:c.868A>G, XM_024446655.2:c.868A>G, XM_024446655.1:c.868A>G, XM_017011747.2:c.685A>G, XM_017011747.1:c.685A>G, XM_017011748.2:c.685A>G, XM_017011748.1:c.685A>G, XM_047419887.1:c.868A>G, XM_047419888.1:c.685A>G, NP_777619.1:p.Thr229Ala, NP_001132928.1:p.Thr381Ala, NP_001318121.1:p.Thr290Ala, XP_011514099.1:p.Thr229Ala, XP_024302422.1:p.Thr290Ala, XP_024302423.1:p.Thr290Ala, XP_016867236.1:p.Thr229Ala, XP_016867237.1:p.Thr229Ala, XP_047275843.1:p.Thr290Ala, XP_047275844.1:p.Thr229Ala

Select item 145245954920.

rs1452459549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:138644737 (GRCh38)
7:138329482 (GRCh37)
Canonical SPDI:: NC_000007.14:138644736:T:C
Gene:: SVOPL (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)
HGVS:: NC_000007.14:g.138644737T>C, NC_000007.13:g.138329482T>C, NG_051552.1:g.61811A>G, NM_174959.3:c.313A>G, NM_174959.2:c.313A>G, NM_001139456.2:c.769A>G, NM_001139456.1:c.769A>G, NM_001331192.1:c.496A>G, XM_011515797.3:c.313A>G, XM_011515797.2:c.313A>G, XM_011515797.1:c.313A>G, XM_024446654.2:c.496A>G, XM_024446654.1:c.496A>G, XM_024446655.2:c.496A>G, XM_024446655.1:c.496A>G, XM_017011747.2:c.313A>G, XM_017011747.1:c.313A>G, XM_017011748.2:c.313A>G, XM_017011748.1:c.313A>G, XM_047419887.1:c.496A>G, XM_047419888.1:c.313A>G, NP_777619.1:p.Lys105Glu, NP_001132928.1:p.Lys257Glu, NP_001318121.1:p.Lys166Glu, XP_011514099.1:p.Lys105Glu, XP_024302422.1:p.Lys166Glu, XP_024302423.1:p.Lys166Glu, XP_016867236.1:p.Lys105Glu, XP_016867237.1:p.Lys105Glu, XP_047275843.1:p.Lys166Glu, XP_047275844.1:p.Lys105Glu

<< First< Prev

Page of 30

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 213021148) (597)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...