Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718340G>T , CM000667.2:g.74718340G>T | GRCh38 |
| NC_000005.9:g.74014165G>T , CM000667.1:g.74014165G>T | GRCh37 |
| NC_000005.8:g.74049921G>T | NCBI36 |
| NG_009770.1:g.38197G>T | |
| NG_009770.2:g.83318G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1219G>T MANE Select | NP_000512.2:p.Glu407Ter |
| ENST00000261416.12:c.1219G>T MANE Select | ENSP00000261416.7:p.Glu407Ter |
| NM_000521.3:c.1219G>T | NP_000512.1:p.Glu407Ter |
| NM_001292004.1:c.544G>T | NP_001278933.1:p.Glu182Ter |
| NM_001292004.2:c.544G>T | NP_001278933.1:p.Glu182Ter |
| ENST00000261416.11:c.1219G>T | ENSP00000261416.7:p.Glu407Ter |
| ENST00000503312.5:c.95G>T | |
| ENST00000504459.5:n.416G>T | |
| ENST00000511181.5:c.544G>T | ENSP00000426285.1:p.Glu182Ter |
| ENST00000513336.5:c.155G>T | |
| ENST00000513539.1:n.50G>T |