Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884769G>T , CM000680.2:g.13884769G>T | GRCh38 |
| NC_000018.9:g.13884768G>T , CM000680.1:g.13884768G>T | GRCh37 |
| NC_000018.8:g.13874768G>T | NCBI36 |
| NG_011819.1:g.35768C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000529.2:c.750C>A MANE Select | NP_000520.1:p.Tyr250Ter |
| ENST00000327606.4:c.750C>A MANE Select | ENSP00000333821.2:p.Tyr250Ter |
| NM_001291911.1:c.750C>A | NP_001278840.1:p.Tyr250Ter |
| ENST00000327606.3:c.750C>A | ENSP00000333821.2:p.Tyr250Ter |
| XM_017025781.1:c.750C>A | XP_016881270.1:p.Tyr250Ter |