Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81244914C>T , CM000679.2:g.81244914C>T | GRCh38 |
| NC_000017.10:g.79218714C>T , CM000679.1:g.79218714C>T | GRCh37 |
| NC_000017.9:g.76833309C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374759.8:c.*642G>A MANE Select | ENSP00000363891.3:n.*642G>A | |
| NM_001037984.2:c.*642G>A | NP_001033073.1:n.*642G>A | |
| NM_001037984.3:c.*642G>A MANE Select | NP_001033073.1:n.*642G>A |