Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29275403G>A , CM000664.2:g.29275403G>A | GRCh38 |
| NC_000002.11:g.29498269G>A , CM000664.1:g.29498269G>A | GRCh37 |
| NC_000002.10:g.29351773G>A | NCBI36 |
| NG_009445.1:g.651164C>T , LRG_488:g.651164C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1911C>T MANE Select | ENSP00000373700.3:p.Thr637= | |
| ENST00000389048.7:c.1911C>T | ENSP00000373700.3:p.Thr637= | |
| ENST00000618119.4:c.780C>T | ENSP00000482733.1:p.Thr260= | |
| NM_004304.4:c.1911C>T | NP_004295.2:p.Thr637= | |
| XR_001738688.2:n.2841C>T | ||
| NM_004304.5:c.1911C>T MANE Select | NP_004295.2:p.Thr637= |