Linked Data
ClinVar Variation Id:
287303
dbSNP Id:
rs141292904
ExAC:
9:94794758 C / T
gnomAD v2:
9-94794758-C-T
gnomAD v3:
9-92032476-C-T
gnomAD v4:
9-92032476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92032476C>T , CM000671.2:g.92032476C>T | GRCh38 |
| NC_000009.11:g.94794758C>T , CM000671.1:g.94794758C>T | GRCh37 |
| NC_000009.10:g.93834579C>T | NCBI36 |
| NG_007950.1:g.87933G>A , LRG_272:g.87933G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686600.1:c.*123G>A | ENSP00000509268.1:n.*123G>A | |
| ENST00000686799.1:n.1735G>A | ||
| ENST00000687427.1:c.*167G>A | ENSP00000509426.1:n.*167G>A | |
| ENST00000687817.1:c.*3809G>A | ENSP00000508926.1:n.*3809G>A | |
| ENST00000687972.1:c.1471G>A | ENSP00000509208.1:p.Val491Ile | |
| ENST00000689261.1:n.1318G>A | ||
| ENST00000689401.1:c.*1661G>A | ENSP00000510251.1:n.*1661G>A | |
| ENST00000690095.1:n.1799G>A | ||
| ENST00000690139.1:c.*1112G>A | ENSP00000510483.1:n.*1112G>A | |
| ENST00000692458.1:n.2049G>A | ||
| ENST00000262554.7:c.1411G>A MANE Select | ENSP00000262554.2:p.Val471Ile | |
| ENST00000642671.1:c.1629+2334G>A | ENSP00000495764.1:n.1629+2334G>A | |
| ENST00000643599.1:c.1396+2334G>A | ENSP00000494770.1:n.1396+2334G>A | |
| ENST00000644140.1:c.*1152G>A | ENSP00000493933.1:n.*1152G>A | |
| ENST00000646481.1:c.1260+2334G>A | ENSP00000496627.1:n.1260+2334G>A | |
| ENST00000646534.1:c.*1214G>A | ENSP00000495388.1:n.*1214G>A | |
| ENST00000262554.6:c.1411G>A | ENSP00000262554.2:p.Val471Ile | |
| ENST00000469778.1:n.368G>A | ||
| NM_001281303.1:c.1379G>A | NP_001268232.1:p.Arg460His | |
| NM_006415.3:c.1411G>A | NP_006406.1:p.Val471Ile | |
| XM_011518139.1:c.946G>A | XP_011516441.1:p.Val316Ile | |
| XM_011518139.3:c.946G>A | XP_011516441.1:p.Val316Ile | |
| XM_017014200.2:c.1045G>A | XP_016869689.1:p.Val349Ile | |
| XM_017014201.2:c.1045G>A | XP_016869690.1:p.Val349Ile | |
| XM_024447378.1:c.946G>A | XP_024303146.1:p.Val316Ile | |
| XM_024447379.1:c.946G>A | XP_024303147.1:p.Val316Ile | |
| XR_002956744.1:n.1561G>A | ||
| NM_006415.4:c.1411G>A MANE Select | NP_006406.1:p.Val471Ile | |
| NM_001281303.2:c.1379G>A | NP_001268232.1:p.Arg460His | |
| NM_001368272.1:c.1045G>A | NP_001355201.1:p.Val349Ile | |
| NM_001368273.1:c.946G>A | NP_001355202.1:p.Val316Ile |