Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73241451G>A , CM000673.2:g.73241451G>A | GRCh38 |
| NC_000011.9:g.72952496G>A , CM000673.1:g.72952496G>A | GRCh37 |
| NC_000011.8:g.72630144G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002564.4:c.*6158G>A MANE Select | NP_002555.4:n.*6158G>A |
| ENST00000393597.7:c.*6158G>A MANE Select | ENSP00000377222.2:n.*6158G>A |
| NM_002564.3:c.*6158G>A | NP_002555.3:n.*6158G>A |
| NM_176071.2:c.*6158G>A | NP_788085.2:n.*6158G>A |
| NM_176071.3:c.*6158G>A | NP_788085.3:n.*6158G>A |
| NM_176072.2:c.*6158G>A | NP_788086.2:n.*6158G>A |
| NM_176072.3:c.*6158G>A | NP_788086.3:n.*6158G>A |
| XR_001747890.1:n.1934-1848G>A | |
| XR_001747891.1:n.1934-1848G>A | |
| XR_001747892.1:n.2346G>A |