Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562859C>A , CM000682.2:g.57562859C>A | GRCh38 |
| NC_000020.10:g.56137915C>A , CM000682.1:g.56137915C>A | GRCh37 |
| NC_000020.9:g.55571321C>A | NCBI36 |
| NG_008205.1:g.6779C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.570C>A MANE Select | ENSP00000319814.4:p.Val190= | |
| ENST00000319441.5:c.570C>A | ENSP00000319814.4:p.Val190= | |
| ENST00000467047.1:n.1780C>A | ||
| ENST00000470051.1:n.26C>A | ||
| ENST00000498194.1:n.512C>A | ||
| NM_002591.3:c.570C>A | NP_002582.3:p.Val190= | |
| XM_011528839.1:c.174C>A | XP_011527141.1:p.Val58= | |
| XM_024451888.1:c.174C>A | XP_024307656.1:p.Val58= | |
| NM_002591.4:c.570C>A MANE Select | NP_002582.3:p.Val190= |