Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942973A>C , CM000678.2:g.67942973A>C | GRCh38 |
| NC_000016.9:g.67976876A>C , CM000678.1:g.67976876A>C | GRCh37 |
| NC_000016.8:g.66534377A>C | NCBI36 |
| NG_009778.1:g.6140T>G | |
| NG_033098.1:g.30722T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.315T>G MANE Select | ENSP00000264005.5:p.Val105= | |
| ENST00000264005.9:c.315T>G | ENSP00000264005.5:p.Val105= | |
| ENST00000570369.5:c.43T>G | ||
| ENST00000570980.1:c.99T>G | ENSP00000464651.1:p.Val33= | |
| ENST00000575277.1:n.93T>G | ||
| ENST00000575467.5:c.*10T>G | ENSP00000460653.1:n.*10T>G | |
| NM_000229.1:c.315T>G | NP_000220.1:p.Val105= | |
| NM_000229.2:c.315T>G MANE Select | NP_000220.1:p.Val105= |