Linked Data
ClinVar Variation Id:
1625464
ClinVar RCV Id:
RCV002108980
dbSNP Id:
rs375284555
ExAC:
2:72562106 C / T
gnomAD v2:
2-72562106-C-T
gnomAD v3:
2-72334977-C-T
gnomAD v4:
2-72334977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72334977C>T , CM000664.2:g.72334977C>T | GRCh38 |
| NC_000002.11:g.72562106C>T , CM000664.1:g.72562106C>T | GRCh37 |
| NC_000002.10:g.72415614C>T | NCBI36 |
| NG_050967.1:g.496072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272427.11:c.2166G>A MANE Select | ENSP00000272427.7:p.Thr722= | |
| ENST00000272427.10:c.2166G>A | ENSP00000272427.6:p.Thr722= | |
| ENST00000471335.5:n.87G>A | ||
| ENST00000490919.5:n.105G>A | ||
| ENST00000634650.1:c.2166G>A | ENSP00000489442.1:p.Thr722= | |
| NM_015189.1:c.2166G>A | NP_056004.1:p.Thr722= | |
| XM_005264223.1:c.2166G>A | XP_005264280.1:p.Thr722= | |
| XM_005264224.1:c.1170G>A | XP_005264281.1:p.Thr390= | |
| XM_011532710.1:c.2097G>A | XP_011531012.1:p.Thr699= | |
| NM_001321729.1:c.2166G>A | NP_001308658.1:p.Thr722= | |
| NM_001321730.1:c.2031G>A | NP_001308659.1:p.Thr677= | |
| NM_001321731.1:c.2166G>A | NP_001308660.1:p.Thr722= | |
| NM_001321733.1:c.2031G>A | NP_001308662.1:p.Thr677= | |
| NM_001321734.1:c.1827G>A | NP_001308663.1:p.Thr609= | |
| NM_015189.2:c.2166G>A | NP_056004.1:p.Thr722= | |
| NR_135773.1:n.2254+44752G>A | ||
| NR_135774.1:n.1976G>A | ||
| XM_017003641.1:c.1620G>A | XP_016859130.1:p.Thr540= | |
| XM_017003642.1:c.1170G>A | XP_016859131.1:p.Thr390= | |
| NM_001321729.2:c.2166G>A | NP_001308658.1:p.Thr722= | |
| NM_001321730.2:c.2031G>A | NP_001308659.1:p.Thr677= | |
| NM_001321731.2:c.2166G>A | NP_001308660.1:p.Thr722= | |
| NM_001321733.2:c.2031G>A | NP_001308662.1:p.Thr677= | |
| NM_001321734.2:c.1827G>A | NP_001308663.1:p.Thr609= | |
| NM_015189.3:c.2166G>A MANE Select | NP_056004.1:p.Thr722= | |
| NR_135773.2:n.2245+44752G>A | ||
| NR_135774.2:n.1967G>A |