Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1233176T>A , CM000663.2:g.1233176T>A | GRCh38 |
| NC_000001.10:g.1168556T>A , CM000663.1:g.1168556T>A | GRCh37 |
| NC_000001.9:g.1158419T>A | NCBI36 |
| NG_030007.1:g.3892A>T | |
| NG_033265.1:g.5928T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080605.4:c.898T>A MANE Select | NP_542172.2:p.Cys300Ser |
| ENST00000379198.5:c.898T>A MANE Select | ENSP00000368496.2:p.Cys300Ser |
| NM_080605.3:c.898T>A | NP_542172.2:p.Cys300Ser |
| ENST00000379198.3:c.898T>A | ENSP00000368496.2:p.Cys300Ser |