Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20887966T>C , CM000684.2:g.20887966T>C | GRCh38 |
| NC_000022.10:g.21242254T>C , CM000684.1:g.21242254T>C | GRCh37 |
| NC_000022.9:g.19572254T>C | NCBI36 |
| NG_012152.1:g.33963T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*130T>C MANE Select | ENSP00000215730.6:n.*130T>C | |
| ENST00000215730.11:c.*130T>C | ENSP00000215730.6:n.*130T>C | |
| NM_004782.3:c.*130T>C | NP_004773.1:n.*130T>C | |
| NM_004782.4:c.*130T>C MANE Select | NP_004773.1:n.*130T>C |