Linked Data
dbSNP Id:
rs200071273
ExAC:
1:43296780 G / A
gnomAD v2:
1-43296780-G-A
gnomAD v3:
1-42831109-G-A
gnomAD v4:
1-42831109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42831109G>A , CM000663.2:g.42831109G>A | GRCh38 |
| NC_000001.10:g.43296780G>A , CM000663.1:g.43296780G>A | GRCh37 |
| NC_000001.9:g.43069367G>A | NCBI36 |
| NG_008749.1:g.19005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.427G>A MANE Select | ENSP00000361595.2:p.Val143Ile | |
| ENST00000487556.6:n.452-3929G>A | ||
| ENST00000642150.1:n.614G>A | ||
| ENST00000647120.1:n.248-3929G>A | ||
| ENST00000328249.3:c.157G>A | ENSP00000332439.3:p.Val53Ile | |
| ENST00000372514.7:c.427G>A | ENSP00000361592.3:p.Val143Ile | |
| ENST00000372517.6:c.427G>A | ENSP00000361595.2:p.Val143Ile | |
| ENST00000487556.5:n.247-3929G>A | ||
| NM_001017922.1:c.427G>A | NP_001017922.1:p.Val143Ile | |
| NM_018538.3:c.427G>A | NP_061008.2:p.Val143Ile | |
| XM_006710313.2:c.427G>A | XP_006710376.1:p.Val143Ile | |
| XM_011540570.1:c.427G>A | XP_011538872.1:p.Val143Ile | |
| XM_011540571.1:c.427G>A | XP_011538873.1:p.Val143Ile | |
| XM_006710313.4:c.427G>A | XP_006710376.1:p.Val143Ile | |
| XM_011540570.3:c.427G>A | XP_011538872.1:p.Val143Ile | |
| XM_011540571.3:c.427G>A | XP_011538873.1:p.Val143Ile | |
| NM_001017922.2:c.427G>A MANE Select | NP_001017922.1:p.Val143Ile | |
| NM_018538.4:c.427G>A | NP_061008.2:p.Val143Ile |