Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102689939T>C , CM000672.2:g.102689939T>C | GRCh38 |
| NC_000010.10:g.104449696T>C , CM000672.1:g.104449696T>C | GRCh37 |
| NC_000010.9:g.104439686T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004311.4:c.269A>G MANE Select | NP_004302.1:p.Tyr90Cys |
| ENST00000260746.6:c.269A>G MANE Select | ENSP00000260746.4:p.Tyr90Cys |
| NM_004311.3:c.269A>G | NP_004302.1:p.Tyr90Cys |
| ENST00000260746.5:c.269A>G | ENSP00000260746.4:p.Tyr90Cys |
| XM_017016260.1:c.269A>G | XP_016871749.1:p.Tyr90Cys |