Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101452869G>A , CM000673.2:g.101452869G>A | GRCh38 |
| NC_000011.9:g.101323600G>A , CM000673.1:g.101323600G>A | GRCh37 |
| NC_000011.8:g.100828810G>A | NCBI36 |
| NG_011476.1:g.136060C>T | |
| NG_011476.2:g.136060C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004621.6:c.*86C>T MANE Select | NP_004612.2:n.*86C>T |
| ENST00000344327.8:c.*86C>T MANE Select | ENSP00000340913.3:n.*86C>T |
| NM_004621.5:c.*86C>T | NP_004612.2:n.*86C>T |
| ENST00000344327.7:c.*86C>T | ENSP00000340913.3:n.*86C>T |
| XM_006718898.2:c.*86C>T | XP_006718961.1:n.*86C>T |
| XM_011542968.1:c.*86C>T | XP_011541270.1:n.*86C>T |
| XM_011542968.3:c.*86C>T | XP_011541270.1:n.*86C>T |
| XM_017018221.2:c.*86C>T | XP_016873710.1:n.*86C>T |
| XR_001747948.2:n.3239C>T |