Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29480668C>T , CM000684.2:g.29480668C>T | GRCh38 |
| NC_000022.10:g.29876657C>T , CM000684.1:g.29876657C>T | GRCh37 |
| NC_000022.9:g.28206657C>T | NCBI36 |
| NG_008404.1:g.5477C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.406C>T MANE Select | NP_066554.2:p.Gln136Ter |
| ENST00000310624.7:c.406C>T MANE Select | ENSP00000311997.6:p.Gln136Ter |
| NM_021076.3:c.406C>T | NP_066554.2:p.Gln136Ter |
| ENST00000310624.6:c.406C>T | ENSP00000311997.6:p.Gln136Ter |
| XM_011530200.1:c.406C>T | XP_011528502.1:p.Gln136Ter |
| XM_011530200.2:c.406C>T | XP_011528502.1:p.Gln136Ter |