Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151888341A>G , CM000663.2:g.151888341A>G | GRCh38 |
| NC_000001.10:g.151860817A>G , CM000663.1:g.151860817A>G | GRCh37 |
| NC_000001.9:g.150127441A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053055.5:c.489T>C MANE Select | NP_444283.2:p.Thr163= |
| ENST00000368814.8:c.489T>C MANE Select | ENSP00000357804.3:p.Thr163= |
| NM_053055.4:c.489T>C | NP_444283.2:p.Thr163= |
| ENST00000368814.7:c.489T>C | ENSP00000357804.3:p.Thr163= |
| ENST00000471464.5:c.*397T>C | ENSP00000431288.1:n.*397T>C |
| ENST00000477437.1:n.580T>C | |
| ENST00000483207.5:n.1661T>C | |
| XM_011509142.1:c.297T>C | XP_011507444.1:p.Thr99= |
| XM_011509142.2:c.297T>C | XP_011507444.1:p.Thr99= |