Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52567100C>T , CM000674.2:g.52567100C>T | GRCh38 |
| NC_000012.11:g.52960884C>T , CM000674.1:g.52960884C>T | GRCh37 |
| NC_000012.10:g.51247151C>T | NCBI36 |
| NG_012321.1:g.11726G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175053.4:c.1459G>A MANE Select | NP_778223.2:p.Ala487Thr |
| ENST00000305620.3:c.1459G>A MANE Select | ENSP00000307240.2:p.Ala487Thr |
| NM_175053.3:c.1459G>A | NP_778223.2:p.Ala487Thr |
| ENST00000305620.2:c.1459G>A | ENSP00000307240.2:p.Ala487Thr |
| ENST00000546384.1:n.446G>A | |
| ENST00000549343.5:c.1501G>A | ENSP00000447447.1:p.Ala501Thr |
| XM_011537902.1:c.1459G>A | XP_011536204.1:p.Ala487Thr |