Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.41479031G>T , CM000663.2:g.41479031G>T | GRCh38 |
| NC_000001.10:g.41944702G>T , CM000663.1:g.41944702G>T | GRCh37 |
| NC_000001.9:g.41717289G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372587.5:c.*378C>A MANE Select | ENSP00000361668.4:n.*378C>A | |
| ENST00000372587.4:c.*378C>A | ENSP00000361668.4:n.*378C>A | |
| NM_001302269.1:c.*378C>A | NP_001289198.1:n.*378C>A | |
| NM_001956.4:c.*378C>A | NP_001947.1:n.*378C>A | |
| NR_126098.1:n.906C>A | ||
| XM_017000512.1:c.*378C>A | XP_016856001.1:n.*378C>A | |
| NM_001956.5:c.*378C>A MANE Select | NP_001947.1:n.*378C>A | |
| NM_001302269.2:c.*378C>A | NP_001289198.1:n.*378C>A | |
| NR_126098.2:n.906C>A |