Linked Data
ClinVar Variation Id:
4692
ClinVar RCV Id:
RCV000268347
RCV000238745
RCV000416490
RCV000996266
RCV001781185
RCV002054415
RCV002260961
RCV002512782
dbSNP Id:
rs2066845
ExAC:
16:50756540 G / C
gnomAD v2:
16-50756540-G-C
gnomAD v3:
16-50722629-G-C
gnomAD v4:
16-50722629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50722629G>C , CM000678.2:g.50722629G>C | GRCh38 |
| NC_000016.9:g.50756540G>C , CM000678.1:g.50756540G>C | GRCh37 |
| NC_000016.8:g.49314041G>C | NCBI36 |
| NG_007508.1:g.30491G>C , LRG_177:g.30491G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-7189G>C | ENSP00000493088.1:n.2382-7189G>C | |
| ENST00000646677.2:c.*406G>C | ENSP00000496533.1:n.*406G>C | |
| ENST00000697425.1:c.468G>C | ||
| ENST00000697426.1:c.356G>C | ||
| ENST00000697427.1:c.272G>C | ||
| ENST00000697428.1:n.2119G>C | ||
| ENST00000641284.1:c.2382-7189G>C | ENSP00000493088.1:n.2382-7189G>C | |
| ENST00000646677.1:c.*406G>C | ENSP00000496533.1:n.*406G>C | |
| ENST00000647318.2:c.2641G>C MANE Select | ENSP00000495993.1:p.Gly881Arg | |
| ENST00000300589.6:c.2722G>C | ENSP00000300589.2:p.Gly908Arg | |
| ENST00000524712.5:c.216G>C | ||
| ENST00000527052.5:c.188G>C | ||
| ENST00000529633.5:c.300G>C | ||
| ENST00000534057.1:c.356G>C | ||
| ENST00000534067.5:c.452G>C | ||
| NM_001293557.1:c.2641G>C | NP_001280486.1:p.Gly881Arg | |
| NM_022162.2:c.2722G>C | NP_071445.1:p.Gly908Arg | |
| XM_005256084.2:c.2641G>C | XP_005256141.1:p.Gly881Arg | |
| XM_006721242.2:c.2557G>C | XP_006721305.1:p.Gly853Arg | |
| XM_011523257.1:c.2218G>C | XP_011521559.1:p.Gly740Arg | |
| XM_011523258.1:c.2218G>C | XP_011521560.1:p.Gly740Arg | |
| XM_011523259.1:c.2056G>C | XP_011521561.1:p.Gly686Arg | |
| XR_429725.2:n.2563G>C | ||
| XR_429726.2:n.2479G>C | ||
| XR_933387.1:n.2759G>C | ||
| XM_005256084.4:c.2641G>C | XP_005256141.1:p.Gly881Arg | |
| XM_006721242.4:c.2557G>C | XP_006721305.1:p.Gly853Arg | |
| XM_011523259.2:c.2056G>C | XP_011521561.1:p.Gly686Arg | |
| XM_017023535.1:c.2149G>C | XP_016879024.1:p.Gly717Arg | |
| XM_017023536.1:c.2056G>C | XP_016879025.1:p.Gly686Arg | |
| XM_017023537.1:c.2056G>C | XP_016879026.1:p.Gly686Arg | |
| XM_017023538.1:c.2056G>C | XP_016879027.1:p.Gly686Arg | |
| XR_429725.3:n.2516G>C | ||
| XR_429726.3:n.2432G>C | ||
| XR_933387.2:n.2712G>C | ||
| NM_001293557.2:c.2641G>C | NP_001280486.1:p.Gly881Arg | |
| NM_001370466.1:c.2641G>C MANE Select | NP_001357395.1:p.Gly881Arg | |
| NM_022162.3:c.2722G>C | NP_071445.1:p.Gly908Arg | |
| NR_163434.1:n.2853G>C |