Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350825G>C , CM000672.2:g.47350825G>C | GRCh38 |
| NC_000010.10:g.48388537C>G , CM000672.1:g.48388537C>G | GRCh37 |
| NC_000010.9:g.48008543C>G | NCBI36 |
| NG_029718.1:g.7455G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002900.3:c.2341G>C MANE Select | NP_002891.1:p.Asp781His |
| ENST00000584701.2:c.2341G>C MANE Select | ENSP00000463151.1:p.Asp781His |
| NM_002900.2:c.2341G>C | NP_002891.1:p.Asp781His |
| ENST00000584701.1:c.2341G>C | ENSP00000463151.1:p.Asp781His |