Linked Data
ClinVar Variation Id:
1055
ClinVar RCV Id:
RCV000001110
dbSNP Id:
rs121918214
ExAC:
16:53907749 G / A
gnomAD v2:
16-53907749-G-A
gnomAD v3:
16-53873837-G-A
gnomAD v4:
16-53873837-G-A
PubMed:
PMID:19559399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53873837G>A , CM000678.2:g.53873837G>A | GRCh38 |
| NC_000016.9:g.53907749G>A , CM000678.1:g.53907749G>A | GRCh37 |
| NC_000016.8:g.52465250G>A | NCBI36 |
| NG_012969.1:g.174875G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471389.6:c.947G>A MANE Select | ENSP00000418823.1:p.Arg316Gln | |
| ENST00000563011.2:c.327G>A | ||
| ENST00000636030.1:n.974G>A | ||
| ENST00000636218.1:c.947G>A | ENSP00000489641.1:p.Arg316Gln | |
| ENST00000636491.1:c.929G>A | ENSP00000490047.1:p.Arg310Gln | |
| ENST00000636992.1:c.947G>A | ENSP00000489886.1:p.Arg316Gln | |
| ENST00000637001.1:c.947G>A | ENSP00000489936.1:p.Arg316Gln | |
| ENST00000637562.1:c.947G>A | ENSP00000490426.1:p.Arg316Gln | |
| ENST00000637845.1:c.947G>A | ENSP00000489638.1:p.Arg316Gln | |
| ENST00000637969.1:c.947G>A | ENSP00000490516.1:p.Arg316Gln | |
| ENST00000464071.1:c.*106G>A | ENSP00000418424.1:n.*106G>A | |
| ENST00000471389.5:c.947G>A | ENSP00000418823.1:p.Arg316Gln | |
| NM_001080432.2:c.947G>A | NP_001073901.1:p.Arg316Gln | |
| XM_011523313.1:c.977G>A | XP_011521615.1:p.Arg326Gln | |
| XM_011523314.1:c.977G>A | XP_011521616.1:p.Arg326Gln | |
| XM_011523315.1:c.977G>A | XP_011521617.1:p.Arg326Gln | |
| XM_011523316.1:c.977G>A | XP_011521618.1:p.Arg326Gln | |
| NM_001363891.1:c.977G>A | NP_001350820.1:p.Arg326Gln | |
| NM_001363894.1:c.947G>A | NP_001350823.1:p.Arg316Gln | |
| NM_001363896.1:c.947G>A | NP_001350825.1:p.Arg316Gln | |
| NM_001363897.1:c.869G>A | NP_001350826.1:p.Arg290Gln | |
| NM_001363898.1:c.977G>A | NP_001350827.1:p.Arg326Gln | |
| NM_001363899.1:c.833G>A | NP_001350828.1:p.Arg278Gln | |
| NM_001363900.1:c.947G>A | NP_001350829.1:p.Arg316Gln | |
| NM_001363901.1:c.803G>A | NP_001350830.1:p.Arg268Gln | |
| NM_001363903.1:c.947G>A | NP_001350832.1:p.Arg316Gln | |
| NM_001363905.1:c.434G>A | NP_001350834.1:p.Arg145Gln | |
| NM_001363988.1:c.947G>A | NP_001350917.1:p.Arg316Gln | |
| NR_156761.1:n.489+29539G>A | ||
| XM_011523314.3:c.977G>A | XP_011521616.1:p.Arg326Gln | |
| XM_011523315.3:c.977G>A | XP_011521617.1:p.Arg326Gln | |
| XM_011523316.3:c.977G>A | XP_011521618.1:p.Arg326Gln | |
| XM_017023654.2:c.977G>A | XP_016879143.1:p.Arg326Gln | |
| XM_017023655.2:c.947G>A | XP_016879144.1:p.Arg316Gln | |
| XM_017023656.2:c.947G>A | XP_016879145.1:p.Arg316Gln | |
| XM_017023657.2:c.947G>A | XP_016879146.1:p.Arg316Gln | |
| XM_024450437.1:c.947G>A | XP_024306205.1:p.Arg316Gln | |
| XR_002957840.1:n.1224G>A | ||
| NM_001080432.3:c.947G>A MANE Select | NP_001073901.1:p.Arg316Gln |