Linked Data
ClinVar Variation Id:
1380314
ClinVar RCV Id:
RCV001917192
dbSNP Id:
rs1177839830
gnomAD v4:
18-45857848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45857848C>T , CM000680.2:g.45857848C>T | GRCh38 |
| NC_000018.9:g.43437813C>T , CM000680.1:g.43437813C>T | GRCh37 |
| NC_000018.8:g.41691811C>T | NCBI36 |
| NG_042838.1:g.114492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5703+5G>A | ||
| ENST00000587884.2:c.7568+5G>A | ENSP00000466990.2:n.7568+5G>A | |
| ENST00000587973.2:n.3307+5G>A | ||
| ENST00000590884.6:c.7103+5G>A | ENSP00000466403.2:n.7103+5G>A | |
| ENST00000592272.6:c.7335+5G>A | ENSP00000467464.2:n.7335+5G>A | |
| ENST00000696481.1:n.4074+5G>A | ||
| ENST00000696482.1:c.7182+5G>A | ENSP00000512656.1:n.7182+5G>A | |
| ENST00000696483.1:c.7442+5G>A | ENSP00000512657.1:n.7442+5G>A | |
| ENST00000696484.1:c.7442+5G>A | ENSP00000512658.1:n.7442+5G>A | |
| ENST00000696485.1:c.*2034+5G>A | ENSP00000512659.1:n.*2034+5G>A | |
| ENST00000696489.1:c.7439+5G>A | ENSP00000512660.1:n.7439+5G>A | |
| ENST00000696490.1:c.7442+5G>A | ENSP00000512661.1:n.7442+5G>A | |
| ENST00000282041.11:c.7442+5G>A MANE Select | ENSP00000282041.4:n.7442+5G>A | |
| ENST00000282041.9:c.7442+5G>A | ENSP00000282041.4:n.7442+5G>A | |
| ENST00000585906.5:n.4226G>A | ||
| ENST00000587262.1:n.302+5G>A | ||
| ENST00000587884.1:c.*3187G>A | ENSP00000466990.1:n.*3187G>A | |
| ENST00000590854.5:c.1219+5G>A | ||
| ENST00000590884.5:c.*1759G>A | ENSP00000466403.1:n.*1759G>A | |
| ENST00000592272.5:c.*1394G>A | ENSP00000467464.1:n.*1394G>A | |
| NM_020964.2:c.7442+5G>A | NP_066015.2:n.7442+5G>A | |
| XM_011526120.1:c.7469+5G>A | XP_011524422.1:n.7469+5G>A | |
| XM_011526121.1:c.7466+5G>A | XP_011524423.1:n.7466+5G>A | |
| XM_011526122.1:c.7442+5G>A | XP_011524424.1:n.7442+5G>A | |
| XM_011526123.1:c.7469+5G>A | XP_011524425.1:n.7469+5G>A | |
| XM_011526124.1:c.7469+5G>A | XP_011524426.1:n.7469+5G>A | |
| XM_011526125.1:c.7328+5G>A | XP_011524427.1:n.7328+5G>A | |
| XM_011526126.1:c.6404+5G>A | XP_011524428.1:n.6404+5G>A | |
| NM_020964.3:c.7442+5G>A MANE Select | NP_066015.2:n.7442+5G>A | |
| XM_017025889.1:c.7439+5G>A | XP_016881378.1:n.7439+5G>A | |
| XM_017025890.2:c.7442+5G>A | XP_016881379.1:n.7442+5G>A | |
| XM_017025891.1:c.7301+5G>A | XP_016881380.1:n.7301+5G>A | |
| XM_017025892.1:c.6377+5G>A | XP_016881381.1:n.6377+5G>A | |
| XM_017025893.1:c.4067+5G>A | XP_016881382.1:n.4067+5G>A | |
| XR_001753256.1:n.7417+5G>A | ||
| XR_001753257.1:n.7465+5G>A |