Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50145564A>G , CM000676.2:g.50145564A>G | GRCh38 |
| NC_000014.8:g.50612282A>G , CM000676.1:g.50612282A>G | GRCh37 |
| NC_000014.7:g.49682032A>G | NCBI36 |
| NG_051073.1:g.91130T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2417T>C MANE Select | NP_008870.2:p.Val806Ala |
| ENST00000216373.10:c.2417T>C MANE Select | ENSP00000216373.5:p.Val806Ala |
| NM_006939.2:c.2417T>C | NP_008870.2:p.Val806Ala |
| NM_006939.3:c.2417T>C | NP_008870.2:p.Val806Ala |
| ENST00000216373.9:c.2417T>C | ENSP00000216373.5:p.Val806Ala |
| ENST00000543680.5:c.2318T>C | ENSP00000445328.1:p.Val773Ala |
| XM_005268021.1:c.2237T>C | XP_005268078.1:p.Val746Ala |
| XM_011537103.1:c.2378T>C | XP_011535405.1:p.Val793Ala |
| XM_011537104.1:c.2417T>C | XP_011535406.1:p.Val806Ala |