Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110407691A>G , CM000663.2:g.110407691A>G | GRCh38 |
| NC_000001.10:g.110950313A>G , CM000663.1:g.110950313A>G | GRCh37 |
| NC_000001.9:g.110751836A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001382293.1:c.-71T>C MANE Select | NP_001369222.1:n.-71T>C |
| ENST00000602318.6:c.-71T>C MANE Select | ENSP00000473439.1:n.-71T>C |
| NM_006402.2:c.176T>C | NP_006393.2:p.Val59Ala |
| NM_006402.3:c.176T>C | NP_006393.2:p.Val59Ala |
| ENST00000256644.8:c.176T>C | ENSP00000256644.4:p.Val59Ala |
| ENST00000464240.1:n.4T>C | |
| ENST00000602318.5:c.-71T>C | ENSP00000473439.1:n.-71T>C |
| ENST00000614544.1:c.176T>C | ENSP00000480529.1:p.Val59Ala |