Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1233028G>A , CM000663.2:g.1233028G>A | GRCh38 |
| NC_000001.10:g.1168408G>A , CM000663.1:g.1168408G>A | GRCh37 |
| NC_000001.9:g.1158271G>A | NCBI36 |
| NG_030007.1:g.4040C>T | |
| NG_033265.1:g.5780G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080605.4:c.750G>A MANE Select | NP_542172.2:p.Ala250= |
| ENST00000379198.5:c.750G>A MANE Select | ENSP00000368496.2:p.Ala250= |
| NM_080605.3:c.750G>A | NP_542172.2:p.Ala250= |
| ENST00000379198.3:c.750G>A | ENSP00000368496.2:p.Ala250= |