Linked Data
ClinVar Variation Id:
226296
ClinVar RCV Id:
RCV000211445
dbSNP Id:
rs61731956
ExAC:
11:47290147 G / A
gnomAD v2:
11-47290147-G-A
gnomAD v3:
11-47268596-G-A
gnomAD v4:
11-47268596-G-A
PubMed:
PMID:27253448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47268596G>A , CM000673.2:g.47268596G>A | GRCh38 |
| NC_000011.9:g.47290147G>A , CM000673.1:g.47290147G>A | GRCh37 |
| NC_000011.8:g.47246723G>A | NCBI36 |
| NG_029462.1:g.4221G>A | |
| NG_030392.1:g.25297G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441012.7:c.1244G>A MANE Select | ENSP00000387946.2:p.Arg415Gln | |
| ENST00000395397.7:c.1109G>A | ENSP00000378793.3:p.Arg370Gln | |
| ENST00000405576.5:c.929G>A | ENSP00000385073.1:p.Arg310Gln | |
| ENST00000405853.7:c.1064G>A | ENSP00000384745.3:p.Arg355Gln | |
| ENST00000407404.5:c.1064G>A | ENSP00000385801.1:p.Arg355Gln | |
| ENST00000441012.6:c.1244G>A | ENSP00000387946.2:p.Arg415Gln | |
| ENST00000462051.5:n.458G>A | ||
| ENST00000467728.5:c.1244G>A | ENSP00000420656.1:p.Arg415Gln | |
| ENST00000481020.5:n.1469G>A | ||
| ENST00000481889.6:c.1301G>A | ENSP00000433271.1:p.Arg434Gln | |
| ENST00000494018.1:n.262G>A | ||
| ENST00000527949.1:c.791G>A | ENSP00000432073.1:p.Arg264Gln | |
| ENST00000529540.5:n.1431G>A | ||
| ENST00000532630.1:n.329G>A | ||
| ENST00000616973.4:c.1262G>A | ENSP00000477707.1:p.Arg421Gln | |
| NM_001130101.2:c.1064G>A | NP_001123573.1:p.Arg355Gln | |
| NM_001130102.2:c.1109G>A | NP_001123574.1:p.Arg370Gln | |
| NM_001251934.1:c.1262G>A | NP_001238863.1:p.Arg421Gln | |
| NM_001251935.1:c.1262G>A | NP_001238864.1:p.Arg421Gln | |
| NM_005693.3:c.1244G>A | NP_005684.2:p.Arg415Gln | |
| XM_005252705.1:c.1244G>A | XP_005252762.1:p.Arg415Gln | |
| XM_005252706.1:c.1244G>A | XP_005252763.1:p.Arg415Gln | |
| XM_005252707.3:c.1244G>A | XP_005252764.1:p.Arg415Gln | |
| XM_005252709.1:c.1109G>A | XP_005252766.1:p.Arg370Gln | |
| XM_005252710.1:c.1109G>A | XP_005252767.1:p.Arg370Gln | |
| XM_005252713.2:c.1064G>A | XP_005252770.1:p.Arg355Gln | |
| XM_005252715.2:c.977G>A | XP_005252772.1:p.Arg326Gln | |
| XM_005252716.2:c.842G>A | XP_005252773.1:p.Arg281Gln | |
| XM_005252718.2:c.662G>A | XP_005252775.1:p.Arg221Gln | |
| XM_006718112.1:c.1244G>A | XP_006718175.1:p.Arg415Gln | |
| XM_006718113.1:c.1244G>A | XP_006718176.1:p.Arg415Gln | |
| XM_006718114.2:c.1244G>A | XP_006718177.1:p.Arg415Gln | |
| XM_006718115.1:c.1109G>A | XP_006718178.1:p.Arg370Gln | |
| XM_006718116.1:c.1109G>A | XP_006718179.1:p.Arg370Gln | |
| XM_011519805.1:c.1244G>A | XP_011518107.1:p.Arg415Gln | |
| XM_011519806.1:c.929G>A | XP_011518108.1:p.Arg310Gln | |
| XM_011519807.1:c.842G>A | XP_011518109.1:p.Arg281Gln | |
| XM_011519808.1:c.608G>A | XP_011518110.1:p.Arg203Gln | |
| NM_001363595.1:c.929G>A | NP_001350524.1:p.Arg310Gln | |
| XM_005252713.3:c.1064G>A | XP_005252770.1:p.Arg355Gln | |
| XM_005252718.3:c.662G>A | XP_005252775.1:p.Arg221Gln | |
| XM_011519805.2:c.1244G>A | XP_011518107.1:p.Arg415Gln | |
| XM_011519808.2:c.608G>A | XP_011518110.1:p.Arg203Gln | |
| XM_024448284.1:c.1436G>A | XP_024304052.1:p.Arg479Gln | |
| XM_024448285.1:c.1436G>A | XP_024304053.1:p.Arg479Gln | |
| XM_024448286.1:c.1436G>A | XP_024304054.1:p.Arg479Gln | |
| XM_024448287.1:c.1436G>A | XP_024304055.1:p.Arg479Gln | |
| XM_024448288.1:c.1436G>A | XP_024304056.1:p.Arg479Gln | |
| XM_024448289.1:c.1109G>A | XP_024304057.1:p.Arg370Gln | |
| XM_024448290.1:c.1301G>A | XP_024304058.1:p.Arg434Gln | |
| XM_024448291.1:c.1301G>A | XP_024304059.1:p.Arg434Gln | |
| XM_024448292.1:c.1301G>A | XP_024304060.1:p.Arg434Gln | |
| XM_024448293.1:c.1301G>A | XP_024304061.1:p.Arg434Gln | |
| XM_024448294.1:c.1301G>A | XP_024304062.1:p.Arg434Gln | |
| XM_024448295.1:c.1301G>A | XP_024304063.1:p.Arg434Gln | |
| XM_024448296.1:c.1034G>A | XP_024304064.1:p.Arg345Gln | |
| XM_024448297.1:c.1169G>A | XP_024304065.1:p.Arg390Gln | |
| XM_024448298.1:c.1109G>A | XP_024304066.1:p.Arg370Gln | |
| XM_024448299.1:c.1034G>A | XP_024304067.1:p.Arg345Gln | |
| XM_024448300.1:c.1301G>A | XP_024304068.1:p.Arg434Gln | |
| XM_024448302.1:c.800G>A | XP_024304070.1:p.Arg267Gln | |
| NM_005693.4:c.1244G>A MANE Select | NP_005684.2:p.Arg415Gln | |
| NM_001130101.3:c.1064G>A | NP_001123573.1:p.Arg355Gln | |
| NM_001130102.3:c.1109G>A | NP_001123574.1:p.Arg370Gln | |
| NM_001363595.2:c.929G>A | NP_001350524.1:p.Arg310Gln | |
| NM_001251934.2:c.1262G>A | NP_001238863.1:p.Arg421Gln | |
| NM_001251935.2:c.1262G>A | NP_001238864.1:p.Arg421Gln |