Linked Data
dbSNP Id:
rs373569814
ExAC:
18:55222184 C / T
gnomAD v2:
18-55222184-C-T
gnomAD v3:
18-57554952-C-T
gnomAD v4:
18-57554952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57554952C>T , CM000680.2:g.57554952C>T | GRCh38 |
| NC_000018.9:g.55222184C>T , CM000680.1:g.55222184C>T | GRCh37 |
| NC_000018.8:g.53373182C>T | NCBI36 |
| NG_008175.1:g.36786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592699.6:c.706G>A | ENSP00000466263.1:p.Val236Met | |
| ENST00000682485.1:n.980G>A | ||
| ENST00000262093.11:c.805G>A MANE Select | ENSP00000262093.6:p.Val269Met | |
| ENST00000382873.8:c.589G>A | ENSP00000372326.4:p.Val197Met | |
| ENST00000651787.1:n.911G>A | ||
| ENST00000651812.1:n.402G>A | ||
| ENST00000652755.1:c.823G>A | ENSP00000498358.1:p.Val275Met | |
| ENST00000262093.9:c.805G>A | ENSP00000262093.5:p.Val269Met | |
| ENST00000382873.7:c.823G>A | ENSP00000372326.3:p.Val275Met | |
| ENST00000585494.5:c.*532G>A | ENSP00000465243.1:n.*532G>A | |
| ENST00000591977.5:c.72G>A | ||
| ENST00000592699.5:c.706G>A | ENSP00000466263.1:p.Val236Met | |
| NM_000140.3:c.805G>A | NP_000131.2:p.Val269Met | |
| NM_001012515.2:c.823G>A | NP_001012533.1:p.Val275Met | |
| XM_011525881.1:c.724G>A | XP_011524183.1:p.Val242Met | |
| XM_011525882.1:c.589G>A | XP_011524184.1:p.Val197Met | |
| NM_000140.4:c.805G>A | NP_000131.2:p.Val269Met | |
| NM_001012515.3:c.823G>A | NP_001012533.1:p.Val275Met | |
| XM_011525882.2:c.589G>A | XP_011524184.1:p.Val197Met | |
| XM_017025614.2:c.706G>A | XP_016881103.1:p.Val236Met | |
| NM_000140.5:c.805G>A MANE Select | NP_000131.2:p.Val269Met | |
| NM_001012515.4:c.823G>A | NP_001012533.1:p.Val275Met | |
| NM_001371094.1:c.706G>A | NP_001358023.1:p.Val236Met | |
| NM_001371095.1:c.589G>A | NP_001358024.1:p.Val197Met | |
| NM_001374778.1:c.805G>A | NP_001361707.1:p.Val269Met |