Linked Data
ClinVar Variation Id:
46969
ClinVar RCV Id:
RCV000040239
RCV000473565
RCV000724718
RCV001133884
RCV001135397
RCV001135396
RCV002399388
RCV001135394
RCV001135395
dbSNP Id:
rs373491468
ExAC:
2:179497044 C / T
gnomAD v2:
2-179497044-C-T
gnomAD v3:
2-178632317-C-T
gnomAD v4:
2-178632317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632317C>T , CM000664.2:g.178632317C>T | GRCh38 |
| NC_000002.11:g.179497044C>T , CM000664.1:g.179497044C>T | GRCh37 |
| NC_000002.10:g.179205289C>T | NCBI36 |
| NG_011618.3:g.203486G>A , LRG_391:g.203486G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35873G>A | ENSP00000343764.6:p.Arg11958Gln | |
| ENST00000342175.11:c.16958G>A | ENSP00000340554.6:p.Arg5653Gln | |
| ENST00000359218.10:c.16757G>A | ENSP00000352154.5:p.Arg5586Gln | |
| ENST00000342175.10:c.16958G>A | ENSP00000340554.6:p.Arg5653Gln | |
| ENST00000342992.10:c.35873G>A | ENSP00000343764.6:p.Arg11958Gln | |
| ENST00000359218.9:c.16757G>A | ENSP00000352154.5:p.Arg5586Gln | |
| ENST00000460472.6:c.16382G>A | ENSP00000434586.1:p.Arg5461Gln | |
| ENST00000589042.5:c.43577G>A MANE Select | ENSP00000467141.1:p.Arg14526Gln | |
| ENST00000591111.5:c.38654G>A | ENSP00000465570.1:p.Arg12885Gln | |
| ENST00000615779.4:c.38654G>A | ENSP00000483597.1:p.Arg12885Gln | |
| NM_001256850.1:c.38654G>A | NP_001243779.1:p.Arg12885Gln | |
| NM_001267550.2:c.43577G>A MANE Select | NP_001254479.2:p.Arg14526Gln | |
| NM_003319.4:c.16382G>A | NP_003310.4:p.Arg5461Gln | |
| NM_133378.4:c.35873G>A | NP_596869.4:p.Arg11958Gln | |
| NM_133432.3:c.16757G>A | NP_597676.3:p.Arg5586Gln | |
| NM_133437.4:c.16958G>A | NP_597681.4:p.Arg5653Gln | |
| XM_011511729.1:c.42674G>A | XP_011510031.1:p.Arg14225Gln | |
| XM_011511730.1:c.16568G>A | XP_011510032.1:p.Arg5523Gln | |
| XM_011511731.1:c.16427G>A | XP_011510033.1:p.Arg5476Gln | |
| XM_017004819.1:c.42470G>A | XP_016860308.1:p.Arg14157Gln | |
| XM_017004820.1:c.37868G>A | XP_016860309.1:p.Arg12623Gln | |
| XM_017004821.1:c.37865G>A | XP_016860310.1:p.Arg12622Gln | |
| XM_017004822.1:c.34907G>A | XP_016860311.1:p.Arg11636Gln | |
| XM_017004823.1:c.16523G>A | XP_016860312.1:p.Arg5508Gln | |
| XM_024453094.1:c.38018G>A | XP_024308862.1:p.Arg12673Gln | |
| XM_024453095.1:c.38015G>A | XP_024308863.1:p.Arg12672Gln | |
| XM_024453096.1:c.37448G>A | XP_024308864.1:p.Arg12483Gln | |
| XM_024453097.1:c.34790G>A | XP_024308865.1:p.Arg11597Gln | |
| XM_024453098.1:c.34709G>A | XP_024308866.1:p.Arg11570Gln | |
| XM_024453099.1:c.16472G>A | XP_024308867.1:p.Arg5491Gln | |
| XM_024453100.1:c.6326G>A | XP_024308868.1:p.Arg2109Gln |