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