Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639946A>G , CM000682.2:g.10639946A>G | GRCh38 |
| NC_000020.10:g.10620594A>G , CM000682.1:g.10620594A>G | GRCh37 |
| NC_000020.9:g.10568594A>G | NCBI36 |
| NG_007496.1:g.39101T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.3209T>C MANE Select | NP_000205.1:p.Val1070Ala |
| ENST00000254958.10:c.3209T>C MANE Select | ENSP00000254958.4:p.Val1070Ala |
| NM_000214.2:c.3209T>C | NP_000205.1:p.Val1070Ala |
| ENST00000254958.9:c.3209T>C | ENSP00000254958.4:p.Val1070Ala |
| ENST00000423891.6:n.3075T>C | |
| ENST00000617357.1:n.504T>C |