Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20618469C>A , CM000663.2:g.20618469C>A | GRCh38 |
| NC_000001.10:g.20944962C>A , CM000663.1:g.20944962C>A | GRCh37 |
| NC_000001.9:g.20817549C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375071.4:c.342C>A MANE Select | ENSP00000364212.3:p.Pro114= | |
| ENST00000375071.3:c.342C>A | ENSP00000364212.3:p.Pro114= | |
| ENST00000461985.1:n.328C>A | ||
| NM_001785.2:c.342C>A | NP_001776.1:p.Pro114= | |
| NM_001785.3:c.342C>A MANE Select | NP_001776.1:p.Pro114= |