Linked Data
ClinVar Variation Id:
1910439
ClinVar RCV Id:
RCV002593273
dbSNP Id:
rs1347908774
gnomAD v3:
2-72465175-T-A
gnomAD v4:
2-72465175-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72465175T>A , CM000664.2:g.72465175T>A | GRCh38 |
| NC_000002.11:g.72692304T>A , CM000664.1:g.72692304T>A | GRCh37 |
| NC_000002.10:g.72545812T>A | NCBI36 |
| NG_050967.1:g.365874A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272427.11:c.1965A>T MANE Select | ENSP00000272427.7:p.Val655= | |
| ENST00000272427.10:c.1965A>T | ENSP00000272427.6:p.Val655= | |
| ENST00000410104.1:c.1965A>T | ENSP00000386698.1:p.Val655= | |
| ENST00000464347.2:n.387A>T | ||
| ENST00000634650.1:c.1965A>T | ENSP00000489442.1:p.Val655= | |
| NM_015189.1:c.1965A>T | NP_056004.1:p.Val655= | |
| XM_005264223.1:c.1965A>T | XP_005264280.1:p.Val655= | |
| XM_005264224.1:c.969A>T | XP_005264281.1:p.Val323= | |
| XM_011532710.1:c.1896A>T | XP_011531012.1:p.Val632= | |
| XM_011532711.1:c.1965A>T | XP_011531013.1:p.Val655= | |
| XM_011532712.1:c.1965A>T | XP_011531014.1:p.Val655= | |
| NM_001321729.1:c.1965A>T | NP_001308658.1:p.Val655= | |
| NM_001321730.1:c.1830A>T | NP_001308659.1:p.Val610= | |
| NM_001321731.1:c.1965A>T | NP_001308660.1:p.Val655= | |
| NM_001321733.1:c.1830A>T | NP_001308662.1:p.Val610= | |
| NM_001321734.1:c.1626A>T | NP_001308663.1:p.Val542= | |
| NM_015189.2:c.1965A>T | NP_056004.1:p.Val655= | |
| NR_135773.1:n.2097A>T | ||
| NR_135774.1:n.1932+15441A>T | ||
| XM_011532711.3:c.1965A>T | XP_011531013.1:p.Val655= | |
| XM_011532712.3:c.1965A>T | XP_011531014.1:p.Val655= | |
| XM_017003641.1:c.1419A>T | XP_016859130.1:p.Val473= | |
| XM_017003642.1:c.969A>T | XP_016859131.1:p.Val323= | |
| NM_001321729.2:c.1965A>T | NP_001308658.1:p.Val655= | |
| NM_001321730.2:c.1830A>T | NP_001308659.1:p.Val610= | |
| NM_001321731.2:c.1965A>T | NP_001308660.1:p.Val655= | |
| NM_001321733.2:c.1830A>T | NP_001308662.1:p.Val610= | |
| NM_001321734.2:c.1626A>T | NP_001308663.1:p.Val542= | |
| NM_015189.3:c.1965A>T MANE Select | NP_056004.1:p.Val655= | |
| NR_135773.2:n.2088A>T | ||
| NR_135774.2:n.1923+15441A>T |