Linked Data
ClinVar Variation Id:
3008727
ClinVar RCV Id:
RCV003861854
dbSNP Id:
rs553920789
gnomAD v3:
18-45852503-C-G
gnomAD v4:
18-45852503-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45852503C>G , CM000680.2:g.45852503C>G | GRCh38 |
| NC_000018.9:g.43432468C>G , CM000680.1:g.43432468C>G | GRCh37 |
| NC_000018.8:g.41686466C>G | NCBI36 |
| NG_042838.1:g.119837G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5965G>C | ||
| ENST00000587884.2:c.7830G>C | ENSP00000466990.2:n.7830G>C | |
| ENST00000587973.2:n.3569G>C | ||
| ENST00000590884.6:c.7365G>C | ENSP00000466403.2:n.7365G>C | |
| ENST00000592272.6:c.7597G>C | ENSP00000467464.2:n.7597G>C | |
| ENST00000696481.1:n.4074+5350G>C | ||
| ENST00000696482.1:c.7329G>C | ENSP00000512656.1:n.7329G>C | |
| ENST00000696483.1:c.7557+3070G>C | ENSP00000512657.1:n.7557+3070G>C | |
| ENST00000696484.1:c.7442+5350G>C | ENSP00000512658.1:n.7442+5350G>C | |
| ENST00000696485.1:c.*2296G>C | ENSP00000512659.1:n.*2296G>C | |
| ENST00000696489.1:c.7701G>C | ENSP00000512660.1:p.Leu2567= | |
| ENST00000696490.1:c.*140G>C | ENSP00000512661.1:n.*140G>C | |
| ENST00000282041.11:c.7704G>C MANE Select | ENSP00000282041.4:p.Leu2568= | |
| ENST00000282041.9:c.7704G>C | ENSP00000282041.4:p.Leu2568= | |
| ENST00000590854.5:c.1481G>C | ||
| NM_020964.2:c.7704G>C | NP_066015.2:p.Leu2568= | |
| XM_011526123.1:c.7731G>C | XP_011524425.1:p.Leu2577= | |
| XM_011526124.1:c.7584+3070G>C | XP_011524426.1:n.7584+3070G>C | |
| NM_020964.3:c.7704G>C MANE Select | NP_066015.2:p.Leu2568= | |
| XM_017025890.2:c.7557+3070G>C | XP_016881379.1:n.7557+3070G>C | |
| XR_001753256.1:n.7679G>C | ||
| XR_001753257.1:n.7727G>C |