Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44828121C>T , CM000663.2:g.44828121C>T | GRCh38 |
| NC_000001.10:g.45293793C>T , CM000663.1:g.45293793C>T | GRCh37 |
| NC_000001.9:g.45066380C>T | NCBI36 |
| NG_013369.1:g.19824G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.1780G>A MANE Select | NP_003729.3:p.Ala594Thr |
| ENST00000372192.4:c.1780G>A MANE Select | ENSP00000361266.3:p.Ala594Thr |
| NM_001166292.1:c.1780G>A | NP_001159764.1:p.Ala594Thr |
| NM_001166292.2:c.1780G>A | NP_001159764.1:p.Ala594Thr |
| NM_003738.4:c.1780G>A | NP_003729.3:p.Ala594Thr |
| ENST00000372192.3:c.1780G>A | ENSP00000361266.3:p.Ala594Thr |
| ENST00000447098.6:c.1780G>A | ENSP00000389703.2:p.Ala594Thr |