Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32088817A>G , CM000668.2:g.32088817A>G | GRCh38 |
| NC_000006.11:g.32056594A>G , CM000668.1:g.32056594A>G | GRCh37 |
| NC_000006.10:g.32164572A>G | NCBI36 |
| NG_008337.2:g.25558T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.2747T>C MANE Select | NP_001352205.1:p.Val916Ala |
| ENST00000644971.2:c.2747T>C MANE Select | ENSP00000496448.1:p.Val916Ala |
| NM_001365276.1:c.2747T>C | NP_001352205.1:p.Val916Ala |
| NM_019105.6:c.2747T>C | NP_061978.6:p.Val916Ala |
| NM_019105.7:c.2747T>C | NP_061978.6:p.Val916Ala |
| NM_019105.8:c.2747T>C | NP_061978.6:p.Val916Ala |
| ENST00000375244.7:c.2747T>C | ENSP00000364393.3:p.Val916Ala |
| ENST00000613214.4:c.2603T>C | ENSP00000480067.1:p.Val868Ala |
| ENST00000647633.1:c.2747T>C | ENSP00000497649.1:p.Val916Ala |