Linked Data
ClinVar Variation Id:
517357
ClinVar RCV Id:
RCV000613132
RCV000710344
RCV001043882
RCV001110608
RCV001110609
RCV001110610
RCV001272496
dbSNP Id:
rs782311929
ExAC:
11:76883813 G / A
gnomAD v2:
11-76883813-G-A
gnomAD v3:
11-77172767-G-A
gnomAD v4:
11-77172767-G-A
ERepo:
CA6197622/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77172767G>A , CM000673.2:g.77172767G>A | GRCh38 |
| NC_000011.9:g.76883813G>A , CM000673.1:g.76883813G>A | GRCh37 |
| NC_000011.8:g.76561461G>A | NCBI36 |
| NG_009086.1:g.49504G>A | |
| NG_009086.2:g.49522G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.1817G>A MANE Select | ENSP00000386331.3:p.Arg606His | |
| ENST00000669443.1:c.181G>A | ||
| ENST00000409619.6:c.1784G>A | ENSP00000386635.2:p.Arg595His | |
| ENST00000409709.7:c.1817G>A | ENSP00000386331.3:p.Arg606His | |
| ENST00000409893.5:c.1817G>A | ENSP00000386689.1:p.Arg606His | |
| ENST00000458637.6:c.1817G>A | ENSP00000392185.2:p.Arg606His | |
| ENST00000620575.4:c.1817G>A | ENSP00000477640.1:p.Arg606His | |
| NM_000260.3:c.1817G>A | NP_000251.3:p.Arg606His | |
| NM_001127179.2:c.1817G>A | NP_001120651.2:p.Arg606His | |
| NM_001127180.1:c.1817G>A | NP_001120652.1:p.Arg606His | |
| XM_005274012.2:c.1817G>A | XP_005274069.1:p.Arg606His | |
| XM_006718558.2:c.1817G>A | XP_006718621.1:p.Arg606His | |
| XM_006718559.2:c.1817G>A | XP_006718622.1:p.Arg606His | |
| XM_006718560.2:c.1817G>A | XP_006718623.1:p.Arg606His | |
| XM_006718561.2:c.1817G>A | XP_006718624.1:p.Arg606His | |
| XM_011545044.1:c.1817G>A | XP_011543346.1:p.Arg606His | |
| XM_011545045.1:c.1817G>A | XP_011543347.1:p.Arg606His | |
| XM_011545046.1:c.1784G>A | XP_011543348.1:p.Arg595His | |
| XM_011545047.1:c.1817G>A | XP_011543349.1:p.Arg606His | |
| XM_011545048.1:c.1817G>A | XP_011543350.1:p.Arg606His | |
| XM_011545049.1:c.1586G>A | XP_011543351.1:p.Arg529His | |
| XM_011545050.1:c.1559G>A | XP_011543352.1:p.Arg520His | |
| XM_011545051.1:c.1817G>A | XP_011543353.1:p.Arg606His | |
| XM_011545052.1:c.1817G>A | XP_011543354.1:p.Arg606His | |
| XR_949938.1:n.2137G>A | ||
| XR_949941.1:n.2137G>A | ||
| XR_949942.1:n.2139G>A | ||
| XR_949943.1:n.2139G>A | ||
| XM_011545044.2:c.1817G>A | XP_011543346.1:p.Arg606His | |
| XM_011545046.2:c.1907G>A | XP_011543348.2:p.Arg636His | |
| XM_011545050.2:c.1559G>A | XP_011543352.1:p.Arg520His | |
| XM_017017778.1:c.1907G>A | XP_016873267.1:p.Arg636His | |
| XM_017017779.1:c.1907G>A | XP_016873268.1:p.Arg636His | |
| XM_017017780.1:c.1907G>A | XP_016873269.1:p.Arg636His | |
| XM_017017781.1:c.1907G>A | XP_016873270.1:p.Arg636His | |
| XM_017017782.1:c.1907G>A | XP_016873271.1:p.Arg636His | |
| XM_017017783.1:c.1907G>A | XP_016873272.1:p.Arg636His | |
| XM_017017784.1:c.1907G>A | XP_016873273.1:p.Arg636His | |
| XM_017017785.1:c.1676G>A | XP_016873274.1:p.Arg559His | |
| XM_017017786.1:c.1907G>A | XP_016873275.1:p.Arg636His | |
| XM_017017787.1:c.1907G>A | XP_016873276.1:p.Arg636His | |
| XM_017017788.1:c.1907G>A | XP_016873277.1:p.Arg636His | |
| XR_001747885.1:n.1922G>A | ||
| XR_001747886.1:n.1922G>A | ||
| XR_001747887.1:n.1922G>A | ||
| XR_001747888.1:n.1922G>A | ||
| XR_001747889.1:n.1922G>A | ||
| NM_000260.4:c.1817G>A MANE Select | NP_000251.3:p.Arg606His | |
| NM_001127180.2:c.1817G>A | NP_001120652.1:p.Arg606His | |
| NM_001369365.1:c.1784G>A | NP_001356294.1:p.Arg595His |