Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69005438T>C , CM000673.2:g.69005438T>C | GRCh38 |
| NC_000011.9:g.68772906T>C , CM000673.1:g.68772906T>C | GRCh37 |
| NC_000011.8:g.68529482T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309099.7:c.872A>G MANE Select | ENSP00000309782.6:p.Tyr291Cys | |
| ENST00000309099.6:c.872A>G | ENSP00000309782.6:p.Tyr291Cys | |
| ENST00000441623.1:c.872A>G | ENSP00000403660.1:p.Tyr291Cys | |
| NM_001098515.1:c.872A>G | NP_001091985.1:p.Tyr291Cys | |
| NM_145015.4:c.872A>G | NP_659452.3:p.Tyr291Cys | |
| XM_017017170.1:c.872A>G | XP_016872659.1:p.Tyr291Cys | |
| XM_024448339.1:c.872A>G | XP_024304107.1:p.Tyr291Cys | |
| NM_145015.5:c.872A>G MANE Select | NP_659452.3:p.Tyr291Cys | |
| NM_001098515.2:c.872A>G | NP_001091985.1:p.Tyr291Cys |