Linked Data
ClinVar Variation Id:
995351
ClinVar RCV Id:
RCV001289400
dbSNP Id:
rs1351045983
gnomAD v2:
6-32008649-G-A
gnomAD v3:
6-32040872-G-A
gnomAD v4:
6-32040872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040872G>A , CM000668.2:g.32040872G>A | GRCh38 |
| NC_000006.11:g.32008649G>A , CM000668.1:g.32008649G>A | GRCh37 |
| NC_000006.10:g.32116628G>A | NCBI36 |
| NG_007941.2:g.7565G>A | |
| NG_008337.2:g.73503C>T | |
| NG_007941.3:g.7568G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.1226G>A MANE Select | ENSP00000496625.1:p.Arg409His | |
| ENST00000418967.6:c.1226G>A | ENSP00000408860.2:p.Arg409His | |
| ENST00000435122.3:c.1136G>A | ENSP00000415043.2:p.Arg379His | |
| ENST00000479074.5:n.1367G>A | ||
| ENST00000479730.5:n.1342G>A | ||
| ENST00000483041.5:n.1395G>A | ||
| ENST00000486063.5:n.1205G>A | ||
| NM_000500.7:c.1226G>A | NP_000491.4:p.Arg409His | |
| NM_001128590.3:c.1136G>A | NP_001122062.3:p.Arg379His | |
| XM_011514314.1:c.821G>A | XP_011512616.1:p.Arg274His | |
| NM_000500.9:c.1226G>A MANE Select | NP_000491.4:p.Arg409His | |
| NM_001368143.1:c.821G>A | NP_001355072.1:p.Arg274His | |
| NM_001368144.1:c.821G>A | NP_001355073.1:p.Arg274His | |
| NM_001128590.4:c.1136G>A | NP_001122062.3:p.Arg379His | |
| NM_001368143.2:c.821G>A | NP_001355072.1:p.Arg274His | |
| NM_001368144.2:c.821G>A | NP_001355073.1:p.Arg274His |