Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43989164C>A , CM000684.2:g.43989164C>A | GRCh38 |
| NC_000022.10:g.44385044C>A , CM000684.1:g.44385044C>A | GRCh37 |
| NC_000022.9:g.42716377C>A | NCBI36 |
| NG_029057.1:g.38784C>A | |
| NG_029057.2:g.38784C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.1129C>A MANE Select | ENSP00000345445.4:p.Pro377Thr | |
| ENST00000350028.4:c.1129C>A | ENSP00000345445.4:p.Pro377Thr | |
| ENST00000474323.5:n.1941C>A | ||
| ENST00000494795.1:n.2821C>A | ||
| NM_015380.4:c.1129C>A | NP_056195.3:p.Pro377Thr | |
| NM_015380.5:c.1129C>A MANE Select | NP_056195.3:p.Pro377Thr |