Linked Data
dbSNP Id:
rs2270188
ExAC:
7:116140524 G / T
gnomAD v2:
7-116140524-G-T
gnomAD v3:
7-116500470-G-T
gnomAD v4:
7-116500470-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116500470G>T , CM000669.2:g.116500470G>T | GRCh38 |
| NC_000007.13:g.116140524G>T , CM000669.1:g.116140524G>T | GRCh37 |
| NC_000007.12:g.115927760G>T | NCBI36 |
| NG_029920.1:g.5870G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222693.5:c.338+23G>T MANE Select | ENSP00000222693.4:n.338+23G>T | |
| ENST00000222693.4:c.338+23G>T | ENSP00000222693.4:n.338+23G>T | |
| ENST00000343213.2:c.150+539G>T | ENSP00000345679.2:n.150+539G>T | |
| ENST00000393480.3:c.*19G>T | ENSP00000377120.2:n.*19G>T | |
| ENST00000462876.5:n.1598+23G>T | ||
| ENST00000467035.5:n.1065+1129G>T | ||
| ENST00000472470.5:n.719+1129G>T | ||
| ENST00000477018.5:n.989+1129G>T | ||
| ENST00000478226.5:n.936+1129G>T | ||
| ENST00000484871.5:n.833+23G>T | ||
| ENST00000485561.5:n.440-5501G>T | ||
| ENST00000495841.1:n.404+23G>T | ||
| ENST00000498493.5:n.1438+23G>T | ||
| NM_001206747.1:c.299+23G>T | NP_001193676.1:n.299+23G>T | |
| NM_001206748.1:c.89+23G>T | NP_001193677.1:n.89+23G>T | |
| NM_001233.4:c.338+23G>T | NP_001224.1:n.338+23G>T | |
| NM_198212.2:c.150+539G>T | NP_937855.1:n.150+539G>T | |
| NM_001233.5:c.338+23G>T MANE Select | NP_001224.1:n.338+23G>T | |
| NM_001206747.2:c.299+23G>T | NP_001193676.1:n.299+23G>T | |
| NM_001206748.2:c.89+23G>T | NP_001193677.1:n.89+23G>T | |
| NM_198212.3:c.150+539G>T | NP_937855.1:n.150+539G>T |