Linked Data
ClinVar Variation Id:
2984845
ClinVar RCV Id:
RCV003845988
dbSNP Id:
rs768719624
ExAC:
2:72562067 A / G
gnomAD v2:
2-72562067-A-G
gnomAD v4:
2-72334938-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72334938A>G , CM000664.2:g.72334938A>G | GRCh38 |
| NC_000002.11:g.72562067A>G , CM000664.1:g.72562067A>G | GRCh37 |
| NC_000002.10:g.72415575A>G | NCBI36 |
| NG_050967.1:g.496111T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272427.11:c.2196+9T>C MANE Select | ENSP00000272427.7:n.2196+9T>C | |
| ENST00000272427.10:c.2196+9T>C | ENSP00000272427.6:n.2196+9T>C | |
| ENST00000471335.5:n.117+9T>C | ||
| ENST00000490919.5:n.135+9T>C | ||
| ENST00000634650.1:c.2196+9T>C | ENSP00000489442.1:n.2196+9T>C | |
| NM_015189.1:c.2196+9T>C | NP_056004.1:n.2196+9T>C | |
| XM_005264223.1:c.2196+9T>C | XP_005264280.1:n.2196+9T>C | |
| XM_005264224.1:c.1200+9T>C | XP_005264281.1:n.1200+9T>C | |
| XM_011532710.1:c.2127+9T>C | XP_011531012.1:n.2127+9T>C | |
| NM_001321729.1:c.2196+9T>C | NP_001308658.1:n.2196+9T>C | |
| NM_001321730.1:c.2061+9T>C | NP_001308659.1:n.2061+9T>C | |
| NM_001321731.1:c.2196+9T>C | NP_001308660.1:n.2196+9T>C | |
| NM_001321733.1:c.2061+9T>C | NP_001308662.1:n.2061+9T>C | |
| NM_001321734.1:c.1857+9T>C | NP_001308663.1:n.1857+9T>C | |
| NM_015189.2:c.2196+9T>C | NP_056004.1:n.2196+9T>C | |
| NR_135773.1:n.2254+44791T>C | ||
| NR_135774.1:n.2006+9T>C | ||
| XM_017003641.1:c.1650+9T>C | XP_016859130.1:n.1650+9T>C | |
| XM_017003642.1:c.1200+9T>C | XP_016859131.1:n.1200+9T>C | |
| NM_001321729.2:c.2196+9T>C | NP_001308658.1:n.2196+9T>C | |
| NM_001321730.2:c.2061+9T>C | NP_001308659.1:n.2061+9T>C | |
| NM_001321731.2:c.2196+9T>C | NP_001308660.1:n.2196+9T>C | |
| NM_001321733.2:c.2061+9T>C | NP_001308662.1:n.2061+9T>C | |
| NM_001321734.2:c.1857+9T>C | NP_001308663.1:n.1857+9T>C | |
| NM_015189.3:c.2196+9T>C MANE Select | NP_056004.1:n.2196+9T>C | |
| NR_135773.2:n.2245+44791T>C | ||
| NR_135774.2:n.1997+9T>C |