Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39626914C>T , CM000663.2:g.39626914C>T | GRCh38 |
| NC_000001.10:g.40092586C>T , CM000663.1:g.40092586C>T | GRCh37 |
| NC_000001.9:g.39865173C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372852.4:c.580G>A MANE Select | ENSP00000361943.3:p.Ala194Thr | |
| ENST00000372852.3:c.580G>A | ENSP00000361943.3:p.Ala194Thr | |
| NM_014571.3:c.580G>A | NP_055386.1:p.Ala194Thr | |
| XM_005270745.2:c.496G>A | XP_005270802.1:p.Ala166Thr | |
| XM_005270745.3:c.496G>A | XP_005270802.1:p.Ala166Thr | |
| NM_014571.4:c.580G>A MANE Select | NP_055386.2:p.Ala194Thr |