Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612617T>A , CM000668.2:g.1612617T>A | GRCh38 |
| NC_000006.11:g.1612852T>A , CM000668.1:g.1612852T>A | GRCh37 |
| NC_000006.10:g.1557851T>A | NCBI36 |
| NG_009368.1:g.7172T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*510T>A MANE Select | ENSP00000493906.1:n.*510T>A | |
| ENST00000380874.3:c.*510T>A | ENSP00000370256.2:n.*510T>A | |
| NM_001453.2:c.2172T>A | NP_001444.2:n.2172T>A | |
| NM_001453.3:c.*510T>A MANE Select | NP_001444.2:n.*510T>A |