Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397489A>G , CM000681.2:g.1397489A>G | GRCh38 |
| NC_000019.9:g.1397488A>G , CM000681.1:g.1397488A>G | GRCh37 |
| NC_000019.8:g.1348488A>G | NCBI36 |
| NG_008283.1:g.18606A>G | |
| NG_009785.1:g.9065T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.581T>C MANE Select | NP_000147.1:p.Val194Ala |
| ENST00000252288.8:c.581T>C MANE Select | ENSP00000252288.1:p.Val194Ala |
| NM_000156.5:c.581T>C | NP_000147.1:p.Val194Ala |
| ENST00000252288.6:c.581T>C | ENSP00000252288.1:p.Val194Ala |
| ENST00000640164.1:n.414T>C | |
| ENST00000640762.1:c.512T>C | ENSP00000492031.1:p.Val171Ala |