dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49667554T>G , CM000665.2:g.49667554T>G | GRCh38 |
| NC_000003.11:g.49704987T>G , CM000665.1:g.49704987T>G | GRCh37 |
| NC_000003.10:g.49679991T>G | NCBI36 |
| NG_015892.1:g.118066T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296452.5:c.*105-36T>G MANE Select | ENSP00000296452.4:n.*105-36T>G | |
| ENST00000296452.4:c.*105-36T>G | ENSP00000296452.4:n.*105-36T>G | |
| NM_003458.3:c.*105-36T>G | NP_003449.2:n.*105-36T>G | |
| NM_003458.4:c.*105-36T>G MANE Select | NP_003449.2:n.*105-36T>G |