Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6361743C>G , CM000681.2:g.6361743C>G | GRCh38 |
| NC_000019.9:g.6361754C>G , CM000681.1:g.6361754C>G | GRCh37 |
| NC_000019.8:g.6312754C>G | NCBI36 |
| NG_033887.1:g.5292C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245816.11:c.169C>G MANE Select | ENSP00000245816.3:p.Pro57Ala | |
| ENST00000245816.8:c.169C>G | ENSP00000245816.3:p.Pro57Ala | |
| ENST00000594780.1:n.70C>G | ||
| ENST00000596070.1:n.179C>G | ||
| NM_006012.2:c.169C>G | NP_006003.1:p.Pro57Ala | |
| NM_006012.3:c.169C>G | NP_006003.1:p.Pro57Ala | |
| NM_006012.4:c.169C>G MANE Select | NP_006003.1:p.Pro57Ala |