SNP Links for Protein (Select 37574618) - SNP

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Links from Protein

Items: 1 to 20 of 457

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Select item 14869793721.

rs1486979372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97930362 (GRCh38)
9:100692644 (GRCh37)
Canonical SPDI:: NC_000009.12:97930361:C:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.97930362C>T, NC_000009.11:g.100692644C>T, NM_018437.5:c.1033G>A, NM_018437.4:c.1033G>A, NM_197978.3:c.1033G>A, NM_197978.2:c.1033G>A, NP_060907.2:p.Glu345Lys, NP_932095.1:p.Glu345Lys

Select item 14853723152.

rs1485372315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:97936171 (GRCh38)
9:100698453 (GRCh37)
Canonical SPDI:: NC_000009.12:97936170:C:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.97936171C>A, NC_000009.11:g.100698453C>A, NM_018437.5:c.173G>T, NM_018437.4:c.173G>T, NM_197978.3:c.173G>T, NM_197978.2:c.173G>T, NP_060907.2:p.Gly58Val, NP_932095.1:p.Gly58Val

Select item 14828956233.

rs1482895623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:97930449 (GRCh38)
9:100692731 (GRCh37)
Canonical SPDI:: NC_000009.12:97930448:G:A,NC_000009.12:97930448:G:C
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
HGVS:: NC_000009.12:g.97930449G>A, NC_000009.12:g.97930449G>C, NC_000009.11:g.100692731G>A, NC_000009.11:g.100692731G>C, NM_018437.5:c.946C>T, NM_018437.5:c.946C>G, NM_018437.4:c.946C>T, NM_018437.4:c.946C>G, NM_197978.3:c.946C>T, NM_197978.3:c.946C>G, NM_197978.2:c.946C>T, NM_197978.2:c.946C>G, NP_060907.2:p.Gln316Ter, NP_060907.2:p.Gln316Glu, NP_932095.1:p.Gln316Ter, NP_932095.1:p.Gln316Glu

Select item 14818225584.

rs1481822558 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:97930507 (GRCh38)
9:100692789 (GRCh37)
Canonical SPDI:: NC_000009.12:97930506:G:C
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00067/3 (Estonian)
HGVS:: NC_000009.12:g.97930507G>C, NC_000009.11:g.100692789G>C, NM_018437.5:c.888C>G, NM_018437.4:c.888C>G, NM_197978.3:c.888C>G, NM_197978.2:c.888C>G

Select item 14815455525.

rs1481545552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97930798 (GRCh38)
9:100693080 (GRCh37)
Canonical SPDI:: NC_000009.12:97930797:G:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.97930798G>A, NC_000009.11:g.100693080G>A, NM_018437.5:c.597C>T, NM_018437.4:c.597C>T, NM_197978.3:c.597C>T, NM_197978.2:c.597C>T

Select item 14795735776.

rs1479573577 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:97930534 (GRCh38)
9:100692816 (GRCh37)
Canonical SPDI:: NC_000009.12:97930533:T:C
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.97930534T>C, NC_000009.11:g.100692816T>C, NM_018437.5:c.861A>G, NM_018437.4:c.861A>G, NM_197978.3:c.861A>G, NM_197978.2:c.861A>G

Select item 14778023977.

rs1477802397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97930636 (GRCh38)
9:100692918 (GRCh37)
Canonical SPDI:: NC_000009.12:97930635:C:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.97930636C>T, NC_000009.11:g.100692918C>T, NM_018437.5:c.759G>A, NM_018437.4:c.759G>A, NM_197978.3:c.759G>A, NM_197978.2:c.759G>A

Select item 14769672128.

rs1476967212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:97930768 (GRCh38)
9:100693050 (GRCh37)
Canonical SPDI:: NC_000009.12:97930767:A:G
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.97930768A>G, NC_000009.11:g.100693050A>G, NM_018437.5:c.627T>C, NM_018437.4:c.627T>C, NM_197978.3:c.627T>C, NM_197978.2:c.627T>C

Select item 14715641179.

rs1471564117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:97930241 (GRCh38)
9:100692523 (GRCh37)
Canonical SPDI:: NC_000009.12:97930240:T:C
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.97930241T>C, NC_000009.11:g.100692523T>C, NM_018437.5:c.1154A>G, NM_018437.4:c.1154A>G, NM_197978.3:c.1154A>G, NM_197978.2:c.1154A>G, NP_060907.2:p.Tyr385Cys, NP_932095.1:p.Tyr385Cys

Select item 146992232610.

rs1469922326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:97930110 (GRCh38)
9:100692392 (GRCh37)
Canonical SPDI:: NC_000009.12:97930109:C:A,NC_000009.12:97930109:C:G,NC_000009.12:97930109:C:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000009.12:g.97930110C>A, NC_000009.12:g.97930110C>G, NC_000009.12:g.97930110C>T, NC_000009.11:g.100692392C>A, NC_000009.11:g.100692392C>G, NC_000009.11:g.100692392C>T, NM_018437.5:c.1285G>T, NM_018437.5:c.1285G>C, NM_018437.5:c.1285G>A, NM_018437.4:c.1285G>T, NM_018437.4:c.1285G>C, NM_018437.4:c.1285G>A, NM_197978.3:c.1285G>T, NM_197978.3:c.1285G>C, NM_197978.3:c.1285G>A, NM_197978.2:c.1285G>T, NM_197978.2:c.1285G>C, NM_197978.2:c.1285G>A, NP_060907.2:p.Glu429Ter, NP_060907.2:p.Glu429Gln, NP_060907.2:p.Glu429Lys, NP_932095.1:p.Glu429Ter, NP_932095.1:p.Glu429Gln, NP_932095.1:p.Glu429Lys

Select item 146693835511.

rs1466938355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:97930299 (GRCh38)
9:100692581 (GRCh37)
Canonical SPDI:: NC_000009.12:97930298:A:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.97930299A>T, NC_000009.11:g.100692581A>T, NM_018437.5:c.1096T>A, NM_018437.4:c.1096T>A, NM_197978.3:c.1096T>A, NM_197978.2:c.1096T>A, NP_060907.2:p.Tyr366Asn, NP_932095.1:p.Tyr366Asn

Select item 146444884612.

rs1464448846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97930840 (GRCh38)
9:100693122 (GRCh37)
Canonical SPDI:: NC_000009.12:97930839:G:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.97930840G>A, NC_000009.11:g.100693122G>A, NM_018437.5:c.555C>T, NM_018437.4:c.555C>T, NM_197978.3:c.555C>T, NM_197978.2:c.555C>T

Select item 146175675313.

rs1461756753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:97931170 (GRCh38)
9:100693452 (GRCh37)
Canonical SPDI:: NC_000009.12:97931169:G:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.97931170G>T, NC_000009.11:g.100693452G>T, NM_018437.5:c.225C>A, NM_018437.4:c.225C>A, NM_197978.3:c.225C>A, NM_197978.2:c.225C>A

Select item 145757289814.

rs1457572898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:97930860 (GRCh38)
9:100693142 (GRCh37)
Canonical SPDI:: NC_000009.12:97930859:C:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.97930860C>A, NC_000009.11:g.100693142C>A, NM_018437.5:c.535G>T, NM_018437.4:c.535G>T, NM_197978.3:c.535G>T, NM_197978.2:c.535G>T, NP_060907.2:p.Glu179Ter, NP_932095.1:p.Glu179Ter

Select item 145679823415.

rs1456798234 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:97936228 (GRCh38)
9:100698510 (GRCh37)
Canonical SPDI:: NC_000009.12:97936227:A:C,NC_000009.12:97936227:A:G
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.97936228A>C, NC_000009.12:g.97936228A>G, NC_000009.11:g.100698510A>C, NC_000009.11:g.100698510A>G, NM_018437.5:c.116T>G, NM_018437.5:c.116T>C, NM_018437.4:c.116T>G, NM_018437.4:c.116T>C, NM_197978.3:c.116T>G, NM_197978.3:c.116T>C, NM_197978.2:c.116T>G, NM_197978.2:c.116T>C, NP_060907.2:p.Leu39Arg, NP_060907.2:p.Leu39Pro, NP_932095.1:p.Leu39Arg, NP_932095.1:p.Leu39Pro

Select item 145532389716.

rs1455323897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:97930554 (GRCh38)
9:100692836 (GRCh37)
Canonical SPDI:: NC_000009.12:97930553:G:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.97930554G>T, NC_000009.11:g.100692836G>T, NM_018437.5:c.841C>A, NM_018437.4:c.841C>A, NM_197978.3:c.841C>A, NM_197978.2:c.841C>A, NP_060907.2:p.Pro281Thr, NP_932095.1:p.Pro281Thr

Select item 145282979417.

rs1452829794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:97930226 (GRCh38)
9:100692508 (GRCh37)
Canonical SPDI:: NC_000009.12:97930225:T:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.97930226T>A, NC_000009.11:g.100692508T>A, NM_018437.5:c.1169A>T, NM_018437.4:c.1169A>T, NM_197978.3:c.1169A>T, NM_197978.2:c.1169A>T, NP_060907.2:p.Gln390Leu, NP_932095.1:p.Gln390Leu

Select item 145121081718.

rs1451210817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97930404 (GRCh38)
9:100692686 (GRCh37)
Canonical SPDI:: NC_000009.12:97930403:C:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00003/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.97930404C>T, NC_000009.11:g.100692686C>T, NM_018437.5:c.991G>A, NM_018437.4:c.991G>A, NM_197978.3:c.991G>A, NM_197978.2:c.991G>A, NP_060907.2:p.Glu331Lys, NP_932095.1:p.Glu331Lys

Select item 145092531919.

rs1450925319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:97927474 (GRCh38)
9:100689756 (GRCh37)
Canonical SPDI:: NC_000009.12:97927473:C:T
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.97927474C>T, NC_000009.11:g.100689756C>T, NM_018437.5:c.1365G>A, NM_018437.4:c.1365G>A, NM_197978.3:c.1365G>A, NM_197978.2:c.1365G>A, NP_060907.2:p.Met455Ile, NP_932095.1:p.Met455Ile

Select item 145069929220.

rs1450699292 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:97931067 (GRCh38)
9:100693349 (GRCh37)
Canonical SPDI:: NC_000009.12:97931066:G:A
Gene:: HEMGN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.97931067G>A, NC_000009.11:g.100693349G>A, NM_018437.5:c.328C>T, NM_018437.4:c.328C>T, NM_197978.3:c.328C>T, NM_197978.2:c.328C>T, NP_060907.2:p.Pro110Ser, NP_932095.1:p.Pro110Ser

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