Linked Data
ClinVar Variation Id:
1390845
ClinVar RCV Id:
RCV001889645
dbSNP Id:
rs2048548037
gnomAD v4:
18-45857855-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45857855G>C , CM000680.2:g.45857855G>C | GRCh38 |
| NC_000018.9:g.43437820G>C , CM000680.1:g.43437820G>C | GRCh37 |
| NC_000018.8:g.41691818G>C | NCBI36 |
| NG_042838.1:g.114485C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5701C>G | ||
| ENST00000587884.2:c.7566C>G | ENSP00000466990.2:n.7566C>G | |
| ENST00000587973.2:n.3305C>G | ||
| ENST00000590884.6:c.7101C>G | ENSP00000466403.2:n.7101C>G | |
| ENST00000592272.6:c.7333C>G | ENSP00000467464.2:n.7333C>G | |
| ENST00000696481.1:n.4072C>G | ||
| ENST00000696482.1:c.7180C>G | ENSP00000512656.1:n.7180C>G | |
| ENST00000696483.1:c.7440C>G | ENSP00000512657.1:p.Asn2480Lys | |
| ENST00000696484.1:c.7440C>G | ENSP00000512658.1:p.Asn2480Lys | |
| ENST00000696485.1:c.*2032C>G | ENSP00000512659.1:n.*2032C>G | |
| ENST00000696489.1:c.7437C>G | ENSP00000512660.1:p.Asn2479Lys | |
| ENST00000696490.1:c.7440C>G | ENSP00000512661.1:p.Asn2480Lys | |
| ENST00000282041.11:c.7440C>G MANE Select | ENSP00000282041.4:p.Asn2480Lys | |
| ENST00000282041.9:c.7440C>G | ENSP00000282041.4:p.Asn2480Lys | |
| ENST00000585906.5:n.4219C>G | ||
| ENST00000587262.1:n.300C>G | ||
| ENST00000587884.1:c.*3180C>G | ENSP00000466990.1:n.*3180C>G | |
| ENST00000590854.5:c.1217C>G | ||
| ENST00000590884.5:c.*1752C>G | ENSP00000466403.1:n.*1752C>G | |
| ENST00000592272.5:c.*1387C>G | ENSP00000467464.1:n.*1387C>G | |
| NM_020964.2:c.7440C>G | NP_066015.2:p.Asn2480Lys | |
| XM_011526120.1:c.7467C>G | XP_011524422.1:p.Asn2489Lys | |
| XM_011526121.1:c.7464C>G | XP_011524423.1:p.Asn2488Lys | |
| XM_011526122.1:c.7440C>G | XP_011524424.1:p.Asn2480Lys | |
| XM_011526123.1:c.7467C>G | XP_011524425.1:p.Asn2489Lys | |
| XM_011526124.1:c.7467C>G | XP_011524426.1:p.Asn2489Lys | |
| XM_011526125.1:c.7326C>G | XP_011524427.1:p.Asn2442Lys | |
| XM_011526126.1:c.6402C>G | XP_011524428.1:p.Asn2134Lys | |
| XR_935244.1:n.7433C>G | ||
| NM_020964.3:c.7440C>G MANE Select | NP_066015.2:p.Asn2480Lys | |
| XM_017025889.1:c.7437C>G | XP_016881378.1:p.Asn2479Lys | |
| XM_017025890.2:c.7440C>G | XP_016881379.1:p.Asn2480Lys | |
| XM_017025891.1:c.7299C>G | XP_016881380.1:p.Asn2433Lys | |
| XM_017025892.1:c.6375C>G | XP_016881381.1:p.Asn2125Lys | |
| XM_017025893.1:c.4065C>G | XP_016881382.1:p.Asn1355Lys | |
| XR_001753256.1:n.7415C>G | ||
| XR_001753257.1:n.7463C>G |