Linked Data
ClinVar Variation Id:
1810584
ClinVar RCV Id:
RCV002510071
dbSNP Id:
rs756676294
ExAC:
9:126139238 G / A
gnomAD v2:
9-126139238-G-A
gnomAD v3:
9-123376959-G-A
gnomAD v4:
9-123376959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123376959G>A , CM000671.2:g.123376959G>A | GRCh38 |
| NC_000009.11:g.126139238G>A , CM000671.1:g.126139238G>A | GRCh37 |
| NC_000009.10:g.125179059G>A | NCBI36 |
| NG_051311.1:g.27895G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3755G>A MANE Select | ENSP00000362734.3:p.Arg1252His | |
| ENST00000373631.7:c.3755G>A | ENSP00000362734.3:p.Arg1252His | |
| ENST00000460253.1:c.2759G>A | ENSP00000435279.1:p.Arg920His | |
| NM_173689.6:c.3755G>A | NP_775960.4:p.Arg1252His | |
| NR_104603.1:n.2869G>A | ||
| XM_005251934.1:c.2759G>A | XP_005251991.1:p.Arg920His | |
| XM_011518556.1:c.3728G>A | XP_011516858.1:p.Arg1243His | |
| XM_011518557.1:c.3560G>A | XP_011516859.1:p.Arg1187His | |
| XM_011518558.1:c.3560G>A | XP_011516860.1:p.Arg1187His | |
| XM_005251934.3:c.2759G>A | XP_005251991.1:p.Arg920His | |
| XM_011518556.3:c.3728G>A | XP_011516858.1:p.Arg1243His | |
| XM_011518557.3:c.3560G>A | XP_011516859.1:p.Arg1187His | |
| XM_011518558.3:c.3560G>A | XP_011516860.1:p.Arg1187His | |
| NM_173689.7:c.3755G>A MANE Select | NP_775960.4:p.Arg1252His | |
| NR_104603.2:n.2869G>A |