Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732970G>T , CM000663.2:g.115732970G>T | GRCh38 |
| NC_000001.10:g.116275591G>T , CM000663.1:g.116275591G>T | GRCh37 |
| NC_000001.9:g.116077114G>T | NCBI36 |
| NG_008802.1:g.40836C>A , LRG_404:g.40836C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.261C>A | ENSP00000518226.1:p.Tyr87Ter | |
| ENST00000261448.6:c.537C>A MANE Select | ENSP00000261448.5:p.Tyr179Ter | |
| ENST00000261448.5:c.537C>A | ENSP00000261448.5:p.Tyr179Ter | |
| NM_001232.3:c.537C>A , LRG_404t1:c.537C>A | NP_001223.2:p.Tyr179Ter | |
| NM_001232.4:c.537C>A MANE Select | NP_001223.2:p.Tyr179Ter |