Linked Data
ClinVar Variation Id:
1061419
ClinVar RCV Id:
RCV001370995
dbSNP Id:
rs759775503
ExAC:
7:2577855 C / T
gnomAD v2:
7-2577855-C-T
gnomAD v3:
7-2538221-C-T
gnomAD v4:
7-2538221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2538221C>T , CM000669.2:g.2538221C>T | GRCh38 |
| NC_000007.13:g.2577855C>T , CM000669.1:g.2577855C>T | GRCh37 |
| NC_000007.12:g.2544381C>T | NCBI36 |
| NG_032167.1:g.22538G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.2314G>A MANE Select | ENSP00000339637.4:p.Val772Met | |
| ENST00000340611.8:c.2314G>A | ENSP00000339637.4:p.Val772Met | |
| ENST00000467558.5:n.4100G>A | ||
| ENST00000469750.5:n.4886G>A | ||
| ENST00000493232.5:n.5020G>A | ||
| NM_152743.3:c.2314G>A | NP_689956.2:p.Val772Met | |
| XM_005249643.3:c.2494G>A | XP_005249700.1:p.Val832Met | |
| XM_011515177.1:c.2578G>A | XP_011513479.1:p.Val860Met | |
| XM_011515178.1:c.2578G>A | XP_011513480.1:p.Val860Met | |
| XM_011515179.1:c.2575G>A | XP_011513481.1:p.Val859Met | |
| XM_011515180.1:c.2548G>A | XP_011513482.1:p.Val850Met | |
| XM_011515181.1:c.2398G>A | XP_011513483.1:p.Val800Met | |
| XM_011515182.1:c.2578G>A | XP_011513484.1:p.Val860Met | |
| XM_011515183.1:c.2053G>A | XP_011513485.1:p.Val685Met | |
| XM_011515184.1:c.2053G>A | XP_011513486.1:p.Val685Met | |
| XM_011515185.1:c.2314G>A | XP_011513487.1:p.Val772Met | |
| XM_011515187.1:c.1150G>A | XP_011513489.1:p.Val384Met | |
| NM_001350626.1:c.2494G>A | NP_001337555.1:p.Val832Met | |
| NM_001350627.1:c.1789G>A | NP_001337556.1:p.Val597Met | |
| NR_146879.1:n.2731G>A | ||
| XM_011515177.2:c.2578G>A | XP_011513479.1:p.Val860Met | |
| XM_011515179.2:c.2575G>A | XP_011513481.1:p.Val859Met | |
| XM_011515181.2:c.2398G>A | XP_011513483.1:p.Val800Met | |
| XM_011515182.2:c.2578G>A | XP_011513484.1:p.Val860Met | |
| XM_011515184.3:c.2053G>A | XP_011513486.1:p.Val685Met | |
| XM_011515186.2:c.*461G>A | XP_011513488.1:n.*461G>A | |
| XM_017011833.1:c.2491G>A | XP_016867322.1:p.Val831Met | |
| XM_017011834.1:c.2311G>A | XP_016867323.1:p.Val771Met | |
| XM_017011836.2:c.*461G>A | XP_016867325.1:n.*461G>A | |
| XM_024446682.1:c.1150G>A | XP_024302450.1:p.Val384Met | |
| NM_152743.4:c.2314G>A MANE Select | NP_689956.2:p.Val772Met | |
| NM_001350626.2:c.2494G>A | NP_001337555.1:p.Val832Met | |
| NM_001350627.2:c.1789G>A | NP_001337556.1:p.Val597Met | |
| NR_146879.2:n.2497G>A |