gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81699165A>C , CM000669.2:g.81699165A>C | GRCh38 |
| NC_000007.13:g.81328481A>C , CM000669.1:g.81328481A>C | GRCh37 |
| NC_000007.12:g.81166417A>C | NCBI36 |
| NG_016274.2:g.75972T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.*3416T>G MANE Select | ENSP00000222390.5:n.*3416T>G | |
| ENST00000222390.9:c.*3416T>G | ENSP00000222390.5:n.*3416T>G | |
| XM_006715956.2:c.*3416T>G | XP_006716019.1:n.*3416T>G | |
| XM_011516115.1:c.*3416T>G | XP_011514417.1:n.*3416T>G | |
| NM_000601.5:c.*3416T>G | NP_000592.3:n.*3416T>G | |
| NM_001010932.2:c.*3416T>G | NP_001010932.1:n.*3416T>G | |
| NM_000601.6:c.*3416T>G MANE Select | NP_000592.3:n.*3416T>G | |
| NM_001010932.3:c.*3416T>G | NP_001010932.1:n.*3416T>G |