Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169513732G>T , CM000663.2:g.169513732G>T | GRCh38 |
| NC_000001.10:g.169482970G>T , CM000663.1:g.169482970G>T | GRCh37 |
| NC_000001.9:g.167749594G>T | NCBI36 |
| NG_011806.1:g.77800C>A , LRG_553:g.77800C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000130.5:c.*581C>A MANE Select | NP_000121.2:n.*581C>A |
| ENST00000367797.9:c.*581C>A MANE Select | ENSP00000356771.3:n.*581C>A |
| NM_000130.4:c.*581C>A , LRG_553t1:c.*581C>A | NP_000121.2:n.*581C>A |
| XM_017000660.2:c.*581C>A | XP_016856149.1:n.*581C>A |