Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29615336C>T , CM000681.2:g.29615336C>T | GRCh38 |
| NC_000019.9:g.30106243C>T , CM000681.1:g.30106243C>T | GRCh37 |
| NC_000019.8:g.34798083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006627.3:c.619C>T MANE Select | NP_006618.1:p.Arg207Trp |
| ENST00000585603.6:c.619C>T MANE Select | ENSP00000465213.1:p.Arg207Trp |
| NM_006627.2:c.619C>T | NP_006618.1:p.Arg207Trp |
| NR_027368.1:n.451C>T | |
| NR_027368.2:n.431C>T | |
| ENST00000221770.7:c.247C>T | ENSP00000221770.3:p.Arg83Trp |
| ENST00000585603.5:c.619C>T | ENSP00000465213.1:p.Arg207Trp |
| ENST00000587232.1:n.241C>T | |
| ENST00000591061.5:c.*243C>T | ENSP00000468718.1:n.*243C>T |
| ENST00000591824.5:n.724C>T |