Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49537138C>T , CM000681.2:g.49537138C>T | GRCh38 |
| NC_000019.9:g.50040395C>T , CM000681.1:g.50040395C>T | GRCh37 |
| NC_000019.8:g.54732207C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270645.8:c.551C>T MANE Select | ENSP00000270645.2:p.Thr184Ile | |
| ENST00000270645.7:c.551C>T | ENSP00000270645.2:p.Thr184Ile | |
| ENST00000598833.1:c.398C>T | ENSP00000470540.1:p.Thr133Ile | |
| NM_020650.2:c.551C>T | NP_065701.2:p.Thr184Ile | |
| XM_005259089.2:c.62C>T | XP_005259146.1:p.Thr21Ile | |
| XM_011527143.1:c.551C>T | XP_011525445.1:p.Thr184Ile | |
| XM_024451620.1:c.551C>T | XP_024307388.1:p.Thr184Ile | |
| NM_020650.3:c.551C>T MANE Select | NP_065701.2:p.Thr184Ile |