Linked Data
dbSNP Id:
rs532545277
ExAC:
9:94830249 C / A
gnomAD v2:
9-94830249-C-A
gnomAD v3:
9-92067967-C-A
gnomAD v4:
9-92067967-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92067967C>A , CM000671.2:g.92067967C>A | GRCh38 |
| NC_000009.11:g.94830249C>A , CM000671.1:g.94830249C>A | GRCh37 |
| NC_000009.10:g.93870070C>A | NCBI36 |
| NG_007950.1:g.52442G>T , LRG_272:g.52442G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482632.6:n.969G>T | ||
| ENST00000686600.1:c.559G>T | ENSP00000509268.1:p.Val187Leu | |
| ENST00000686799.1:n.656G>T | ||
| ENST00000687427.1:c.559G>T | ENSP00000509426.1:p.Val187Leu | |
| ENST00000687817.1:c.*362G>T | ENSP00000508926.1:n.*362G>T | |
| ENST00000687972.1:c.619G>T | ENSP00000509208.1:p.Val207Leu | |
| ENST00000689261.1:n.466G>T | ||
| ENST00000689401.1:c.*809G>T | ENSP00000510251.1:n.*809G>T | |
| ENST00000689423.1:c.*809G>T | ENSP00000508519.1:n.*809G>T | |
| ENST00000690095.1:n.887G>T | ||
| ENST00000690139.1:c.*260G>T | ENSP00000510483.1:n.*260G>T | |
| ENST00000692458.1:n.582G>T | ||
| ENST00000693147.1:c.*575G>T | ENSP00000510358.1:n.*575G>T | |
| ENST00000262554.7:c.559G>T MANE Select | ENSP00000262554.2:p.Val187Leu | |
| ENST00000642671.1:c.604G>T | ENSP00000495764.1:n.604G>T | |
| ENST00000643599.1:c.431G>T | ENSP00000494770.1:n.431G>T | |
| ENST00000644140.1:c.*300G>T | ENSP00000493933.1:n.*300G>T | |
| ENST00000646481.1:c.431G>T | ENSP00000496627.1:n.431G>T | |
| ENST00000646534.1:c.*362G>T | ENSP00000495388.1:n.*362G>T | |
| ENST00000262554.6:c.559G>T | ENSP00000262554.2:p.Val187Leu | |
| ENST00000482632.5:n.706G>T | ||
| NM_001281303.1:c.559G>T | NP_001268232.1:p.Val187Leu | |
| NM_006415.3:c.559G>T | NP_006406.1:p.Val187Leu | |
| XM_011518138.1:c.559G>T | XP_011516440.1:p.Val187Leu | |
| XM_011518139.1:c.94G>T | XP_011516441.1:p.Val32Leu | |
| XM_011518138.2:c.559G>T | XP_011516440.1:p.Val187Leu | |
| XM_011518139.3:c.94G>T | XP_011516441.1:p.Val32Leu | |
| XM_017014200.2:c.193G>T | XP_016869689.1:p.Val65Leu | |
| XM_017014201.2:c.193G>T | XP_016869690.1:p.Val65Leu | |
| XM_024447378.1:c.94G>T | XP_024303146.1:p.Val32Leu | |
| XM_024447379.1:c.94G>T | XP_024303147.1:p.Val32Leu | |
| XR_002956744.1:n.709G>T | ||
| NM_006415.4:c.559G>T MANE Select | NP_006406.1:p.Val187Leu | |
| NM_001281303.2:c.559G>T | NP_001268232.1:p.Val187Leu | |
| NM_001368272.1:c.193G>T | NP_001355201.1:p.Val65Leu | |
| NM_001368273.1:c.94G>T | NP_001355202.1:p.Val32Leu |