Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10640899A>C , CM000682.2:g.10640899A>C | GRCh38 |
| NC_000020.10:g.10621547A>C , CM000682.1:g.10621547A>C | GRCh37 |
| NC_000020.9:g.10569547A>C | NCBI36 |
| NG_007496.1:g.38148T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.3083T>G MANE Select | NP_000205.1:p.Ile1028Ser |
| ENST00000254958.10:c.3083T>G MANE Select | ENSP00000254958.4:p.Ile1028Ser |
| NM_000214.2:c.3083T>G | NP_000205.1:p.Ile1028Ser |
| ENST00000254958.9:c.3083T>G | ENSP00000254958.4:p.Ile1028Ser |
| ENST00000423891.6:n.2949T>G | |
| ENST00000617357.1:n.378T>G |