Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186674409C>A , CM000663.2:g.186674409C>A | GRCh38 |
| NC_000001.10:g.186643541C>A , CM000663.1:g.186643541C>A | GRCh37 |
| NC_000001.9:g.184910164C>A | NCBI36 |
| NG_028206.2:g.11019G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000963.4:c.1759G>T MANE Select | NP_000954.1:p.Gly587Ter |
| ENST00000367468.10:c.1759G>T MANE Select | ENSP00000356438.5:p.Gly587Ter |
| NM_000963.3:c.1759G>T | NP_000954.1:p.Gly587Ter |
| ENST00000367468.9:c.1759G>T | ENSP00000356438.5:p.Gly587Ter |
| ENST00000490885.6:n.2174G>T | |
| ENST00000559627.1:c.1649G>T | ENSP00000454130.1:n.1649G>T |
| ENST00000680451.1:c.1759G>T | ENSP00000506242.1:p.Gly587Ter |
| ENST00000681605.1:c.*1431G>T | ENSP00000504900.1:n.*1431G>T |