Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110960G>A , CM000674.2:g.6110960G>A | GRCh38 |
| NC_000012.11:g.6220126G>A , CM000674.1:g.6220126G>A | GRCh37 |
| NC_000012.10:g.6090387G>A | NCBI36 |
| NG_009072.1:g.18711C>T | |
| NG_009072.2:g.18711C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.229C>T MANE Select | NP_000543.3:p.Gln77Ter |
| ENST00000261405.10:c.229C>T MANE Select | ENSP00000261405.5:p.Gln77Ter |
| NM_000552.3:c.229C>T | NP_000543.2:p.Gln77Ter |
| NM_000552.4:c.229C>T | NP_000543.2:p.Gln77Ter |
| ENST00000261405.9:c.229C>T | ENSP00000261405.5:p.Gln77Ter |
| ENST00000321023.5:c.*288C>T | ENSP00000461331.1:n.*288C>T |
| ENST00000538635.5:n.258C>T |