Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639652G>C , CM000682.2:g.10639652G>C | GRCh38 |
| NC_000020.10:g.10620300G>C , CM000682.1:g.10620300G>C | GRCh37 |
| NC_000020.9:g.10568300G>C | NCBI36 |
| NG_007496.1:g.39395C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.3503C>G MANE Select | NP_000205.1:p.Ala1168Gly |
| ENST00000254958.10:c.3503C>G MANE Select | ENSP00000254958.4:p.Ala1168Gly |
| NM_000214.2:c.3503C>G | NP_000205.1:p.Ala1168Gly |
| ENST00000254958.9:c.3503C>G | ENSP00000254958.4:p.Ala1168Gly |
| ENST00000423891.6:n.3369C>G |