Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124459A>G , CM000664.2:g.71124459A>G | GRCh38 |
| NC_000002.11:g.71351589A>G , CM000664.1:g.71351589A>G | GRCh37 |
| NC_000002.10:g.71205097A>G | NCBI36 |
| NG_008977.1:g.10806T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.125T>C MANE Select | ENSP00000244217.5:p.Val42Ala | |
| ENST00000244217.5:c.125T>C | ENSP00000244217.5:p.Val42Ala | |
| ENST00000486135.1:c.-161T>C | ENSP00000441569.1:n.-161T>C | |
| ENST00000494660.6:c.-161T>C | ENSP00000437361.1:n.-161T>C | |
| NM_032601.3:c.125T>C | NP_115990.3:p.Val42Ala | |
| XM_005264613.2:c.125T>C | XP_005264670.1:p.Val42Ala | |
| XR_939729.1:n.194T>C | ||
| XR_939729.2:n.194T>C | ||
| NM_032601.4:c.125T>C MANE Select | NP_115990.3:p.Val42Ala |