Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32985782G>C , CM000682.2:g.32985782G>C | GRCh38 |
| NC_000020.10:g.31573588G>C , CM000682.1:g.31573588G>C | GRCh37 |
| NC_000020.9:g.31037249G>C | NCBI36 |
| NG_054760.1:g.23668C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080675.4:c.851C>G MANE Select | NP_542406.2:p.Ser284Ter |
| ENST00000356173.8:c.851C>G MANE Select | ENSP00000348496.3:p.Ser284Ter |
| NM_080675.3:c.851C>G | NP_542406.2:p.Ser284Ter |
| ENST00000356173.7:c.851C>G | ENSP00000348496.3:p.Ser284Ter |
| ENST00000375523.7:c.776C>G | ENSP00000364673.3:p.Ser259Ter |
| XM_011528573.1:c.920C>G | XP_011526875.1:p.Ser307Ter |
| XM_011528574.1:c.776C>G | XP_011526876.1:p.Ser259Ter |
| XM_011528575.1:c.581C>G | XP_011526877.1:p.Ser194Ter |