Linked Data
ClinVar Variation Id:
2740901
ClinVar RCV Id:
RCV003540202
dbSNP Id:
rs757460285
ExAC:
18:43432632 T / C
gnomAD v2:
18-43432632-T-C
gnomAD v4:
18-45852667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45852667T>C , CM000680.2:g.45852667T>C | GRCh38 |
| NC_000018.9:g.43432632T>C , CM000680.1:g.43432632T>C | GRCh37 |
| NC_000018.8:g.41686630T>C | NCBI36 |
| NG_042838.1:g.119673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5819-18A>G | ||
| ENST00000587884.2:c.7684-18A>G | ENSP00000466990.2:n.7684-18A>G | |
| ENST00000587973.2:n.3423-18A>G | ||
| ENST00000590884.6:c.7219-18A>G | ENSP00000466403.2:n.7219-18A>G | |
| ENST00000592272.6:c.7451-18A>G | ENSP00000467464.2:n.7451-18A>G | |
| ENST00000696481.1:n.4074+5186A>G | ||
| ENST00000696482.1:c.7183-18A>G | ENSP00000512656.1:n.7183-18A>G | |
| ENST00000696483.1:c.7557+2906A>G | ENSP00000512657.1:n.7557+2906A>G | |
| ENST00000696484.1:c.7442+5186A>G | ENSP00000512658.1:n.7442+5186A>G | |
| ENST00000696485.1:c.*2150-18A>G | ENSP00000512659.1:n.*2150-18A>G | |
| ENST00000696489.1:c.7555-18A>G | ENSP00000512660.1:n.7555-18A>G | |
| ENST00000696490.1:c.7443-18A>G | ENSP00000512661.1:n.7443-18A>G | |
| ENST00000282041.11:c.7558-18A>G MANE Select | ENSP00000282041.4:n.7558-18A>G | |
| ENST00000282041.9:c.7558-18A>G | ENSP00000282041.4:n.7558-18A>G | |
| ENST00000590854.5:c.1335-18A>G | ||
| NM_020964.2:c.7558-18A>G | NP_066015.2:n.7558-18A>G | |
| XM_011526120.1:c.*539A>G | XP_011524422.1:n.*539A>G | |
| XM_011526121.1:c.*539A>G | XP_011524423.1:n.*539A>G | |
| XM_011526122.1:c.*539A>G | XP_011524424.1:n.*539A>G | |
| XM_011526123.1:c.7585-18A>G | XP_011524425.1:n.7585-18A>G | |
| XM_011526124.1:c.7584+2906A>G | XP_011524426.1:n.7584+2906A>G | |
| XM_011526125.1:c.*539A>G | XP_011524427.1:n.*539A>G | |
| XM_011526126.1:c.*539A>G | XP_011524428.1:n.*539A>G | |
| NM_020964.3:c.7558-18A>G MANE Select | NP_066015.2:n.7558-18A>G | |
| XM_017025889.1:c.*539A>G | XP_016881378.1:n.*539A>G | |
| XM_017025890.2:c.7557+2906A>G | XP_016881379.1:n.7557+2906A>G | |
| XM_017025891.1:c.*539A>G | XP_016881380.1:n.*539A>G | |
| XM_017025892.1:c.*539A>G | XP_016881381.1:n.*539A>G | |
| XM_017025893.1:c.*539A>G | XP_016881382.1:n.*539A>G | |
| XR_001753256.1:n.7533-18A>G | ||
| XR_001753257.1:n.7581-18A>G |