Linked Data
ClinVar Variation Id:
1917267
ClinVar RCV Id:
RCV002625553
dbSNP Id:
rs1254589381
gnomAD v2:
18-43435669-A-T
gnomAD v4:
18-45855704-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45855704A>T , CM000680.2:g.45855704A>T | GRCh38 |
| NC_000018.9:g.43435669A>T , CM000680.1:g.43435669A>T | GRCh37 |
| NC_000018.8:g.41689667A>T | NCBI36 |
| NG_042838.1:g.116636T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5704-17T>A | ||
| ENST00000587884.2:c.7569-17T>A | ENSP00000466990.2:n.7569-17T>A | |
| ENST00000587973.2:n.3308-17T>A | ||
| ENST00000590884.6:c.7104-17T>A | ENSP00000466403.2:n.7104-17T>A | |
| ENST00000592272.6:c.7336-17T>A | ENSP00000467464.2:n.7336-17T>A | |
| ENST00000696481.1:n.4074+2149T>A | ||
| ENST00000696482.1:c.7182+2149T>A | ENSP00000512656.1:n.7182+2149T>A | |
| ENST00000696483.1:c.7443-17T>A | ENSP00000512657.1:n.7443-17T>A | |
| ENST00000696484.1:c.7442+2149T>A | ENSP00000512658.1:n.7442+2149T>A | |
| ENST00000696485.1:c.*2035-17T>A | ENSP00000512659.1:n.*2035-17T>A | |
| ENST00000696489.1:c.7440-17T>A | ENSP00000512660.1:n.7440-17T>A | |
| ENST00000696490.1:c.7442+2149T>A | ENSP00000512661.1:n.7442+2149T>A | |
| ENST00000282041.11:c.7443-17T>A MANE Select | ENSP00000282041.4:n.7443-17T>A | |
| ENST00000282041.9:c.7443-17T>A | ENSP00000282041.4:n.7443-17T>A | |
| ENST00000587262.1:n.303-17T>A | ||
| ENST00000590854.5:c.1220-17T>A | ||
| NM_020964.2:c.7443-17T>A | NP_066015.2:n.7443-17T>A | |
| XM_011526120.1:c.7470-17T>A | XP_011524422.1:n.7470-17T>A | |
| XM_011526121.1:c.7467-17T>A | XP_011524423.1:n.7467-17T>A | |
| XM_011526122.1:c.7443-17T>A | XP_011524424.1:n.7443-17T>A | |
| XM_011526123.1:c.7470-17T>A | XP_011524425.1:n.7470-17T>A | |
| XM_011526124.1:c.7470-17T>A | XP_011524426.1:n.7470-17T>A | |
| XM_011526125.1:c.7329-17T>A | XP_011524427.1:n.7329-17T>A | |
| XM_011526126.1:c.6405-17T>A | XP_011524428.1:n.6405-17T>A | |
| NM_020964.3:c.7443-17T>A MANE Select | NP_066015.2:n.7443-17T>A | |
| XM_017025889.1:c.7440-17T>A | XP_016881378.1:n.7440-17T>A | |
| XM_017025890.2:c.7443-17T>A | XP_016881379.1:n.7443-17T>A | |
| XM_017025891.1:c.7302-17T>A | XP_016881380.1:n.7302-17T>A | |
| XM_017025892.1:c.6378-17T>A | XP_016881381.1:n.6378-17T>A | |
| XM_017025893.1:c.4068-17T>A | XP_016881382.1:n.4068-17T>A | |
| XR_001753256.1:n.7418-17T>A | ||
| XR_001753257.1:n.7466-17T>A |