gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203721314C>G , CM000664.2:g.203721314C>G | GRCh38 |
| NC_000002.11:g.204586037C>G , CM000664.1:g.204586037C>G | GRCh37 |
| NC_000002.10:g.204294282C>G | NCBI36 |
| NG_029618.1:g.19840C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324106.9:c.53-5319C>G MANE Select | ENSP00000324890.7:n.53-5319C>G | |
| ENST00000324106.8:c.53-5319C>G | ENSP00000324890.7:n.53-5319C>G | |
| ENST00000374481.7:c.53-8334C>G | ENSP00000363605.4:n.53-8334C>G | |
| ENST00000458610.6:c.95-5319C>G | ENSP00000393648.2:n.95-5319C>G | |
| NM_001243077.1:c.53-5319C>G | NP_001230006.1:n.53-5319C>G | |
| NM_001243078.1:c.53-8334C>G | NP_001230007.1:n.53-8334C>G | |
| NM_006139.3:c.53-5319C>G | NP_006130.1:n.53-5319C>G | |
| XM_006712862.2:c.95-5637C>G | XP_006712925.1:n.95-5637C>G | |
| XM_011512194.1:c.95-5319C>G | XP_011510496.1:n.95-5319C>G | |
| XM_011512195.1:c.95-5319C>G | XP_011510497.1:n.95-5319C>G | |
| XM_011512196.1:c.95-5319C>G | XP_011510498.1:n.95-5319C>G | |
| XM_011512197.1:c.53-5319C>G | XP_011510499.1:n.53-5319C>G | |
| XM_011512194.2:c.95-5319C>G | XP_011510496.1:n.95-5319C>G | |
| XM_011512195.3:c.95-5319C>G | XP_011510497.1:n.95-5319C>G | |
| XM_011512197.2:c.53-5319C>G | XP_011510499.1:n.53-5319C>G | |
| NM_006139.4:c.53-5319C>G MANE Select | NP_006130.1:n.53-5319C>G | |
| NM_001243077.2:c.53-5319C>G | NP_001230006.1:n.53-5319C>G | |
| NM_001243078.2:c.53-8334C>G | NP_001230007.1:n.53-8334C>G |