Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12701788T>C , CM000686.2:g.12701788T>C | GRCh38 |
| NC_000024.9:g.14813717T>C , CM000686.1:g.14813717T>C | GRCh37 |
| NC_000024.8:g.13323111T>C | NCBI36 |
| NG_008311.1:g.5558T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004654.4:c.-388T>C MANE Select | NP_004645.2:n.-388T>C |
| ENST00000338981.7:c.-388T>C MANE Select | ENSP00000342812.3:n.-388T>C |
| NM_004654.3:c.-388T>C | NP_004645.2:n.-388T>C |
| ENST00000457658.6:n.1262-222T>C | |
| ENST00000651177.1:c.-106-222T>C | ENSP00000498372.1:n.-106-222T>C |