Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888349A>T , CM000684.2:g.20888349A>T | GRCh38 |
| NC_000022.10:g.21242637A>T , CM000684.1:g.21242637A>T | GRCh37 |
| NC_000022.9:g.19572637A>T | NCBI36 |
| NG_012152.1:g.34346A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*513A>T MANE Select | ENSP00000215730.6:n.*513A>T | |
| ENST00000215730.11:c.*513A>T | ENSP00000215730.6:n.*513A>T | |
| NM_004782.3:c.*513A>T | NP_004773.1:n.*513A>T | |
| NM_004782.4:c.*513A>T MANE Select | NP_004773.1:n.*513A>T |