Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150691843G>C , CM000667.2:g.150691843G>C | GRCh38 |
| NC_000005.9:g.150071405G>C , CM000667.1:g.150071405G>C | GRCh37 |
| NC_000005.8:g.150051598G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199814.9:c.1171C>G MANE Select | ENSP00000199814.4:p.Pro391Ala | |
| ENST00000199814.8:c.1171C>G | ENSP00000199814.4:p.Pro391Ala | |
| ENST00000447771.6:c.1024C>G | ENSP00000412118.2:p.Pro342Ala | |
| ENST00000520132.1:n.1018C>G | ||
| NM_018047.2:c.1171C>G | NP_060517.1:p.Pro391Ala | |
| NM_018047.3:c.1171C>G MANE Select | NP_060517.1:p.Pro391Ala |