Linked Data
ClinVar Variation Id:
1563
ClinVar RCV Id:
RCV001227283
dbSNP Id:
rs104894593
gnomAD v2:
17-40695952-G-A
gnomAD v4:
17-42543934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543934G>A , CM000679.2:g.42543934G>A | GRCh38 |
| NC_000017.10:g.40695952G>A , CM000679.1:g.40695952G>A | GRCh37 |
| NC_000017.9:g.37949478G>A | NCBI36 |
| NG_011552.1:g.13002G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.1928G>A MANE Select | ENSP00000225927.1:p.Arg643His | |
| ENST00000225927.6:c.1928G>A | ENSP00000225927.1:p.Arg643His | |
| ENST00000591587.1:c.1266G>A | ENSP00000467836.1:n.1266G>A | |
| NM_000263.3:c.1928G>A | NP_000254.2:p.Arg643His | |
| XM_006721920.2:c.1097G>A | XP_006721983.1:p.Arg366His | |
| XM_011524840.1:c.929G>A | XP_011523142.1:p.Arg310His | |
| XM_017024687.1:c.1097G>A | XP_016880176.1:p.Arg366His | |
| XM_024450771.1:c.1985G>A | XP_024306539.1:p.Arg662His | |
| XM_024450772.1:c.929G>A | XP_024306540.1:p.Arg310His | |
| NM_000263.4:c.1928G>A MANE Select | NP_000254.2:p.Arg643His |