Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714427A>G , CM000681.2:g.6714427A>G | GRCh38 |
| NC_000019.9:g.6714438A>G , CM000681.1:g.6714438A>G | GRCh37 |
| NC_000019.8:g.6665438A>G | NCBI36 |
| NG_009557.1:g.11225T>C , LRG_27:g.11225T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.401T>C | ENSP00000512083.1:p.Val134Ala | |
| ENST00000245907.11:c.524T>C MANE Select | ENSP00000245907.4:p.Val175Ala | |
| ENST00000245907.10:c.524T>C | ENSP00000245907.4:p.Val175Ala | |
| NM_000064.3:c.524T>C | NP_000055.2:p.Val175Ala | |
| NM_000064.4:c.524T>C MANE Select | NP_000055.2:p.Val175Ala |