Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981789T>G , CM000674.2:g.48981789T>G | GRCh38 |
| NC_000012.11:g.49375572T>G , CM000674.1:g.49375572T>G | GRCh37 |
| NC_000012.10:g.47661839T>G | NCBI36 |
| NG_033141.1:g.8337T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*149T>G MANE Select | ENSP00000293549.3:n.*149T>G | |
| NM_005430.3:c.*149T>G | NP_005421.1:n.*149T>G | |
| NM_005430.4:c.*149T>G MANE Select | NP_005421.1:n.*149T>G |