Linked Data
ClinVar Variation Id:
224814
ClinVar RCV Id:
RCV000210411
dbSNP Id:
rs145189179
ExAC:
1:168014447 G / A
gnomAD v2:
1-168014447-G-A
gnomAD v3:
1-168045209-G-A
gnomAD v4:
1-168045209-G-A
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168045209G>A , CM000663.2:g.168045209G>A | GRCh38 |
| NC_000001.10:g.168014447G>A , CM000663.1:g.168014447G>A | GRCh37 |
| NC_000001.9:g.166281071G>A | NCBI36 |
| NG_053062.1:g.113971G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367840.4:c.2240G>A MANE Select | ENSP00000356814.3:p.Arg747Gln | |
| ENST00000312263.10:c.2009G>A | ENSP00000311949.6:p.Arg670Gln | |
| ENST00000367840.3:c.2240G>A | ENSP00000356814.3:p.Arg747Gln | |
| ENST00000367843.7:c.2069G>A | ENSP00000356817.3:p.Arg690Gln | |
| ENST00000432587.6:c.2147G>A | ENSP00000396238.2:p.Arg716Gln | |
| ENST00000478668.1:n.129G>A | ||
| ENST00000489398.1:n.808G>A | ||
| NM_001017977.2:c.2009G>A | NP_001017977.1:p.Arg670Gln | |
| NM_001198956.1:c.2240G>A | NP_001185885.1:p.Arg747Gln | |
| NM_001198957.1:c.2147G>A | NP_001185886.1:p.Arg716Gln | |
| NM_018442.3:c.2069G>A | NP_060912.2:p.Arg690Gln | |
| XM_005245331.3:c.2240G>A | XP_005245388.1:p.Arg747Gln | |
| XM_005245332.3:c.2069G>A | XP_005245389.1:p.Arg690Gln | |
| XM_005245333.3:c.2009G>A | XP_005245390.1:p.Arg670Gln | |
| XM_011509767.1:c.1799G>A | XP_011508069.1:p.Arg600Gln | |
| XR_921892.1:n.2333G>A | ||
| XR_921893.1:n.2162G>A | ||
| NM_001349773.1:c.2240G>A | NP_001336702.1:p.Arg747Gln | |
| NM_001349774.1:c.1628G>A | NP_001336703.1:p.Arg543Gln | |
| NM_001349775.1:c.1628G>A | NP_001336704.1:p.Arg543Gln | |
| NM_001349776.1:c.1628G>A | NP_001336705.1:p.Arg543Gln | |
| NM_001349777.1:c.1628G>A | NP_001336706.1:p.Arg543Gln | |
| NM_001349778.1:c.1568G>A | NP_001336707.1:p.Arg523Gln | |
| NM_001349779.1:c.1568G>A | NP_001336708.1:p.Arg523Gln | |
| NM_001349780.1:c.1568G>A | NP_001336709.1:p.Arg523Gln | |
| NR_146228.1:n.1928G>A | ||
| NR_146229.1:n.2545G>A | ||
| NR_146230.1:n.2244G>A | ||
| XM_005245332.5:c.2069G>A | XP_005245389.1:p.Arg690Gln | |
| XM_005245333.5:c.2009G>A | XP_005245390.1:p.Arg670Gln | |
| XM_017001779.2:c.1799G>A | XP_016857268.1:p.Arg600Gln | |
| XM_024448371.1:c.1799G>A | XP_024304139.1:p.Arg600Gln | |
| XM_024448372.1:c.1628G>A | XP_024304140.1:p.Arg543Gln | |
| XM_024448373.1:c.1568G>A | XP_024304141.1:p.Arg523Gln | |
| XM_024448374.1:c.1568G>A | XP_024304142.1:p.Arg523Gln | |
| XM_024448375.1:c.1568G>A | XP_024304143.1:p.Arg523Gln | |
| NM_001017977.3:c.2009G>A | NP_001017977.1:p.Arg670Gln | |
| NM_001198956.2:c.2240G>A MANE Select | NP_001185885.1:p.Arg747Gln | |
| NM_001198957.2:c.2147G>A | NP_001185886.1:p.Arg716Gln | |
| NM_001349773.2:c.2240G>A | NP_001336702.1:p.Arg747Gln | |
| NM_001349774.2:c.1628G>A | NP_001336703.1:p.Arg543Gln | |
| NM_001349775.2:c.1628G>A | NP_001336704.1:p.Arg543Gln | |
| NM_001349776.2:c.1628G>A | NP_001336705.1:p.Arg543Gln | |
| NM_001349777.2:c.1628G>A | NP_001336706.1:p.Arg543Gln | |
| NM_001349778.2:c.1568G>A | NP_001336707.1:p.Arg523Gln | |
| NM_001349779.2:c.1568G>A | NP_001336708.1:p.Arg523Gln | |
| NM_001349780.2:c.1568G>A | NP_001336709.1:p.Arg523Gln | |
| NM_001393650.1:c.2009G>A | NP_001380579.1:p.Arg670Gln | |
| NM_001393651.1:c.2069G>A | NP_001380580.1:p.Arg690Gln | |
| NM_018442.4:c.2069G>A | NP_060912.2:p.Arg690Gln | |
| NR_146228.2:n.1804G>A | ||
| NR_146229.2:n.2421G>A | ||
| NR_146230.2:n.2120G>A |