Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232502T>C , CM000663.2:g.1232502T>C | GRCh38 |
| NC_000001.10:g.1167882T>C , CM000663.1:g.1167882T>C | GRCh37 |
| NC_000001.9:g.1157745T>C | NCBI36 |
| NG_030007.1:g.4566A>G | |
| NG_033265.1:g.5254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.224T>C MANE Select | ENSP00000368496.2:p.Val75Ala | |
| ENST00000379198.3:c.224T>C | ENSP00000368496.2:p.Val75Ala | |
| NM_080605.3:c.224T>C | NP_542172.2:p.Val75Ala | |
| NM_080605.4:c.224T>C MANE Select | NP_542172.2:p.Val75Ala |