Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151253220C>T , CM000667.2:g.151253220C>T | GRCh38 |
| NC_000005.9:g.150632781C>T , CM000667.1:g.150632781C>T | GRCh37 |
| NC_000005.8:g.150612974C>T | NCBI36 |
| NG_009059.1:g.5169C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.4C>T MANE Select | NP_000396.2:p.Gln2Ter |
| ENST00000357164.4:c.4C>T MANE Select | ENSP00000349687.3:p.Gln2Ter |
| NM_000405.4:c.4C>T | NP_000396.2:p.Gln2Ter |
| NM_001167607.1:c.4C>T | NP_001161079.1:p.Gln2Ter |
| NM_001167607.2:c.4C>T | NP_001161079.1:p.Gln2Ter |
| NM_001167607.3:c.4C>T | NP_001161079.1:p.Gln2Ter |
| ENST00000357164.3:c.4C>T | ENSP00000349687.3:p.Gln2Ter |
| ENST00000523466.5:c.127-6535C>T | ENSP00000429100.1:n.127-6535C>T |