Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445709T>C , CM000663.2:g.15445709T>C | GRCh38 |
| NC_000001.10:g.15772204T>C , CM000663.1:g.15772204T>C | GRCh37 |
| NC_000001.9:g.15644791T>C | NCBI36 |
| NG_009253.1:g.12267T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.752T>C MANE Select | ENSP00000365116.4:p.Val251Ala | |
| ENST00000375943.6:c.*206T>C | ENSP00000365110.2:n.*206T>C | |
| ENST00000375949.4:c.752T>C | ENSP00000365116.4:p.Val251Ala | |
| ENST00000483406.1:n.516T>C | ||
| NM_007272.2:c.752T>C | NP_009203.2:p.Val251Ala | |
| XM_011540550.1:c.606T>C | XP_011538852.1:p.Ser202= | |
| NM_007272.3:c.752T>C MANE Select | NP_009203.2:p.Val251Ala |