Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619196G>A , CM000669.2:g.21619196G>A | GRCh38 |
| NC_000007.13:g.21658814G>A , CM000669.1:g.21658814G>A | GRCh37 |
| NC_000007.12:g.21625339G>A | NCBI36 |
| NG_012886.2:g.80982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4351G>A MANE Select | ENSP00000475939.1:p.Ala1451Thr | |
| ENST00000328843.10:c.4366G>A | ENSP00000330671.7:p.Ala1456Thr | |
| ENST00000409508.7:c.4351G>A | ENSP00000475939.1:p.Ala1451Thr | |
| ENST00000465593.1:n.377G>A | ||
| ENST00000620169.4:c.4366G>A | ENSP00000481693.1:p.Ala1456Thr | |
| NM_001277115.1:c.4351G>A | NP_001264044.1:p.Ala1451Thr | |
| NM_001277115.2:c.4351G>A MANE Select | NP_001264044.1:p.Ala1451Thr |