Linked Data
dbSNP Id:
rs183460
gnomAD v2:
11-108090710-A-T
gnomAD v3:
11-108219983-A-T
gnomAD v4:
11-108219983-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108219983A>T , CM000673.2:g.108219983A>T | GRCh38 |
| NC_000011.9:g.108090710A>T , CM000673.1:g.108090710A>T | GRCh37 |
| NC_000011.8:g.107595920A>T | NCBI36 |
| NG_009830.1:g.2152A>T , LRG_135:g.2152A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278612.9:c.37+2517T>A MANE Select | ENSP00000278612.8:n.37+2517T>A | |
| ENST00000278612.8:c.37+2517T>A | ENSP00000278612.8:n.37+2517T>A | |
| ENST00000531384.1:c.37+2517T>A | ENSP00000433497.1:n.37+2517T>A | |
| ENST00000610253.5:n.137+2517T>A | ||
| NM_002519.2:c.37+2517T>A | NP_002510.2:n.37+2517T>A | |
| XM_011542854.1:c.37+2517T>A | XP_011541156.1:n.37+2517T>A | |
| XM_011542855.1:c.37+2517T>A | XP_011541157.1:n.37+2517T>A | |
| NM_001321307.1:c.37+2517T>A | NP_001308236.1:n.37+2517T>A | |
| XM_011542854.2:c.37+2517T>A | XP_011541156.1:n.37+2517T>A | |
| NM_002519.3:c.37+2517T>A MANE Select | NP_002510.2:n.37+2517T>A |