Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404682G>A , CM000679.2:g.42404682G>A | GRCh38 |
| NC_000017.10:g.40556700G>A , CM000679.1:g.40556700G>A | GRCh37 |
| NC_000017.9:g.37810226G>A | NCBI36 |
| NG_015845.1:g.23639C>T | |
| NG_015845.2:g.23639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*5C>T MANE Select | ENSP00000349541.4:n.*5C>T | |
| ENST00000357037.5:c.*5C>T | ENSP00000349541.4:n.*5C>T | |
| NM_012232.5:c.*5C>T | NP_036364.2:n.*5C>T | |
| NM_012232.6:c.*5C>T MANE Select | NP_036364.2:n.*5C>T |