Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930145G>T , CM000685.2:g.119930145G>T | GRCh38 |
| NC_000023.10:g.119064108G>T , CM000685.1:g.119064108G>T | GRCh37 |
| NC_000023.9:g.118948136G>T | NCBI36 |
| NG_021260.1:g.18628C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.944C>A MANE Select | ENSP00000360464.3:p.Pro315His | |
| ENST00000652253.1:c.940C>A | ||
| ENST00000371410.4:c.944C>A | ENSP00000360464.3:p.Pro315His | |
| ENST00000477789.5:n.1872C>A | ||
| ENST00000482407.1:n.743C>A | ||
| NM_024528.3:c.944C>A | NP_078804.2:p.Pro315His | |
| XM_017029842.1:c.647C>A | XP_016885331.1:p.Pro216His | |
| NM_024528.4:c.944C>A MANE Select | NP_078804.2:p.Pro315His |