Linked Data
ClinVar Variation Id:
1396606
ClinVar RCV Id:
RCV001920005
dbSNP Id:
rs1261947877
gnomAD v2:
11-118963126-G-A
gnomAD v4:
11-119092416-G-A
COSMIC:
COSM2106368
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092416G>A , CM000673.2:g.119092416G>A | GRCh38 |
| NC_000011.9:g.118963126G>A , CM000673.1:g.118963126G>A | GRCh37 |
| NC_000011.8:g.118468336G>A | NCBI36 |
| NG_008093.1:g.12540G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.499G>A | ENSP00000509288.1:p.Val167Met | |
| ENST00000691144.1:n.2645G>A | ||
| ENST00000691249.1:n.1488G>A | ||
| ENST00000442944.7:c.646G>A | ENSP00000392041.3:p.Val216Met | |
| ENST00000536813.6:c.613G>A | ENSP00000438726.2:p.Val205Met | |
| ENST00000640813.1:c.474G>A | ENSP00000491061.1:p.Ala158= | |
| ENST00000648026.1:c.558G>A | ENSP00000498044.1:p.Ala186= | |
| ENST00000648374.1:c.613G>A | ENSP00000497255.1:p.Val205Met | |
| ENST00000649823.1:n.1121G>A | ||
| ENST00000650101.1:c.595G>A | ENSP00000496970.1:p.Val199Met | |
| ENST00000650307.1:n.1490G>A | ||
| ENST00000652429.1:c.664G>A MANE Select | ENSP00000498786.1:p.Val222Met | |
| ENST00000278715.7:c.664G>A | ENSP00000278715.3:p.Val222Met | |
| ENST00000392841.1:c.613G>A | ENSP00000376584.1:p.Val205Met | |
| ENST00000442944.6:c.613G>A | ENSP00000392041.2:p.Val205Met | |
| ENST00000537841.5:c.613G>A | ENSP00000444730.1:p.Val205Met | |
| ENST00000542044.5:n.1109G>A | ||
| ENST00000542729.5:c.600+253G>A | ENSP00000443058.1:n.600+253G>A | |
| ENST00000543090.5:c.571G>A | ENSP00000445429.1:p.Val191Met | |
| ENST00000543543.5:n.1139G>A | ||
| ENST00000544182.1:n.879G>A | ||
| ENST00000544387.5:c.651+253G>A | ENSP00000438424.1:n.651+253G>A | |
| ENST00000545621.5:c.*799G>A | ENSP00000444849.1:n.*799G>A | |
| ENST00000546226.5:n.1192G>A | ||
| NM_000190.3:c.664G>A | NP_000181.2:p.Val222Met | |
| NM_001024382.1:c.613G>A | NP_001019553.1:p.Val205Met | |
| NM_001258208.1:c.651+253G>A | NP_001245137.1:n.651+253G>A | |
| NM_001258209.1:c.600+253G>A | NP_001245138.1:n.600+253G>A | |
| XM_005271531.1:c.613G>A | XP_005271588.1:p.Val205Met | |
| XM_005271532.1:c.613G>A | XP_005271589.1:p.Val205Met | |
| XM_005271533.2:c.610G>A | XP_005271590.1:p.Val204Met | |
| XM_011542796.1:c.499G>A | XP_011541098.1:p.Val167Met | |
| NM_000190.4:c.664G>A MANE Select | NP_000181.2:p.Val222Met | |
| NM_001024382.2:c.613G>A | NP_001019553.1:p.Val205Met | |
| XM_005271533.3:c.610G>A | XP_005271590.1:p.Val204Met | |
| XM_017017629.1:c.613G>A | XP_016873118.1:p.Val205Met | |
| XM_024448460.1:c.597+253G>A | XP_024304228.1:n.597+253G>A | |
| NM_001258208.2:c.651+253G>A | NP_001245137.1:n.651+253G>A | |
| NM_001258209.2:c.600+253G>A | NP_001245138.1:n.600+253G>A |