Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10641171G>C , CM000682.2:g.10641171G>C | GRCh38 |
| NC_000020.10:g.10621819G>C , CM000682.1:g.10621819G>C | GRCh37 |
| NC_000020.9:g.10569819G>C | NCBI36 |
| NG_007496.1:g.37876C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.2990C>G MANE Select | NP_000205.1:p.Ser997Ter |
| ENST00000254958.10:c.2990C>G MANE Select | ENSP00000254958.4:p.Ser997Ter |
| NM_000214.2:c.2990C>G | NP_000205.1:p.Ser997Ter |
| ENST00000254958.9:c.2990C>G | ENSP00000254958.4:p.Ser997Ter |
| ENST00000423891.6:n.2856C>G | |
| ENST00000617357.1:n.106C>G |