Linked Data
ClinVar Variation Id:
538586
dbSNP Id:
rs752109217
ExAC:
19:19308055 G / A
gnomAD v2:
19-19308055-G-A
gnomAD v3:
19-19197246-G-A
gnomAD v4:
19-19197246-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19197246G>A , CM000681.2:g.19197246G>A | GRCh38 |
| NC_000019.9:g.19308055G>A , CM000681.1:g.19308055G>A | GRCh37 |
| NC_000019.8:g.19169055G>A | NCBI36 |
| NG_007432.1:g.10048G>A , LRG_102:g.10048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.332G>A MANE Select | ENSP00000305071.2:p.Arg111Gln | |
| ENST00000303088.8:c.332G>A | ENSP00000305071.2:p.Arg111Gln | |
| ENST00000392324.8:c.268+200G>A | ENSP00000376138.3:n.268+200G>A | |
| ENST00000407360.7:c.332G>A | ENSP00000384572.3:p.Arg111Gln | |
| ENST00000456252.7:c.271+200G>A | ENSP00000409138.2:n.271+200G>A | |
| ENST00000535017.1:c.166+200G>A | ENSP00000444280.1:n.166+200G>A | |
| ENST00000540981.5:c.271+200G>A | ENSP00000440325.2:n.271+200G>A | |
| ENST00000541873.6:n.525G>A | ||
| ENST00000543157.7:n.731G>A | ||
| ENST00000545522.2:n.471G>A | ||
| ENST00000593273.5:c.329G>A | ENSP00000466913.1:p.Arg110Gln | |
| NM_001278727.1:c.271+200G>A | NP_001265656.1:n.271+200G>A | |
| NM_001278728.1:c.268+200G>A | NP_001265657.1:n.268+200G>A | |
| NM_003721.3:c.332G>A | NP_003712.1:p.Arg111Gln | |
| NM_134440.2:c.268+200G>A | NP_604389.1:n.268+200G>A | |
| XM_005260134.3:c.332G>A | XP_005260191.1:p.Arg111Gln | |
| XM_005260135.2:c.332G>A | XP_005260192.1:p.Arg111Gln | |
| XM_005260136.3:c.329G>A | XP_005260193.1:p.Arg110Gln | |
| XM_005260137.3:c.329G>A | XP_005260194.1:p.Arg110Gln | |
| XM_006722930.2:c.329G>A | XP_006722993.1:p.Arg110Gln | |
| XM_005260134.5:c.332G>A | XP_005260191.1:p.Arg111Gln | |
| XM_005260135.3:c.332G>A | XP_005260192.1:p.Arg111Gln | |
| XM_005260136.5:c.329G>A | XP_005260193.1:p.Arg110Gln | |
| XM_005260137.4:c.329G>A | XP_005260194.1:p.Arg110Gln | |
| XM_006722930.4:c.329G>A | XP_006722993.1:p.Arg110Gln | |
| XM_017027415.1:c.332G>A | XP_016882904.1:p.Arg111Gln | |
| XM_017027416.1:c.271+200G>A | XP_016882905.1:n.271+200G>A | |
| NM_003721.4:c.332G>A MANE Select | NP_003712.1:p.Arg111Gln | |
| NM_001370233.1:c.332G>A | NP_001357162.1:p.Arg111Gln | |
| NM_001370234.1:c.271+200G>A | NP_001357163.1:n.271+200G>A | |
| NM_001370235.1:c.329G>A | NP_001357164.1:p.Arg110Gln | |
| NM_001370236.1:c.329G>A | NP_001357165.1:p.Arg110Gln | |
| NM_001370237.1:c.329G>A | NP_001357166.1:p.Arg110Gln | |
| NM_001370238.1:c.332G>A | NP_001357167.1:p.Arg111Gln | |
| NM_001278727.2:c.271+200G>A | NP_001265656.1:n.271+200G>A | |
| NM_001278728.2:c.268+200G>A | NP_001265657.1:n.268+200G>A | |
| NM_134440.3:c.268+200G>A | NP_604389.1:n.268+200G>A |