Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101452380G>T , CM000673.2:g.101452380G>T | GRCh38 |
| NC_000011.9:g.101323111G>T , CM000673.1:g.101323111G>T | GRCh37 |
| NC_000011.8:g.100828321G>T | NCBI36 |
| NG_011476.1:g.136549C>A | |
| NG_011476.2:g.136549C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004621.6:c.*575C>A MANE Select | NP_004612.2:n.*575C>A |
| ENST00000344327.8:c.*575C>A MANE Select | ENSP00000340913.3:n.*575C>A |
| NM_004621.5:c.*575C>A | NP_004612.2:n.*575C>A |
| ENST00000344327.7:c.*575C>A | ENSP00000340913.3:n.*575C>A |
| XM_006718898.2:c.*575C>A | XP_006718961.1:n.*575C>A |
| XM_011542968.1:c.*575C>A | XP_011541270.1:n.*575C>A |
| XM_011542968.3:c.*575C>A | XP_011541270.1:n.*575C>A |
| XM_017018221.2:c.*575C>A | XP_016873710.1:n.*575C>A |
| XR_001747948.2:n.3728C>A | |
| XR_947953.1:n.3272G>T |