Linked Data
ClinVar Variation Id:
1943689
ClinVar RCV Id:
RCV002650581
dbSNP Id:
rs1320449268
gnomAD v3:
18-45852654-A-G
gnomAD v4:
18-45852654-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45852654A>G , CM000680.2:g.45852654A>G | GRCh38 |
| NC_000018.9:g.43432619A>G , CM000680.1:g.43432619A>G | GRCh37 |
| NC_000018.8:g.41686617A>G | NCBI36 |
| NG_042838.1:g.119686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5819-5T>C | ||
| ENST00000587884.2:c.7684-5T>C | ENSP00000466990.2:n.7684-5T>C | |
| ENST00000587973.2:n.3423-5T>C | ||
| ENST00000590884.6:c.7219-5T>C | ENSP00000466403.2:n.7219-5T>C | |
| ENST00000592272.6:c.7451-5T>C | ENSP00000467464.2:n.7451-5T>C | |
| ENST00000696481.1:n.4074+5199T>C | ||
| ENST00000696482.1:c.7183-5T>C | ENSP00000512656.1:n.7183-5T>C | |
| ENST00000696483.1:c.7557+2919T>C | ENSP00000512657.1:n.7557+2919T>C | |
| ENST00000696484.1:c.7442+5199T>C | ENSP00000512658.1:n.7442+5199T>C | |
| ENST00000696485.1:c.*2150-5T>C | ENSP00000512659.1:n.*2150-5T>C | |
| ENST00000696489.1:c.7555-5T>C | ENSP00000512660.1:n.7555-5T>C | |
| ENST00000696490.1:c.7443-5T>C | ENSP00000512661.1:n.7443-5T>C | |
| ENST00000282041.11:c.7558-5T>C MANE Select | ENSP00000282041.4:n.7558-5T>C | |
| ENST00000282041.9:c.7558-5T>C | ENSP00000282041.4:n.7558-5T>C | |
| ENST00000590854.5:c.1335-5T>C | ||
| NM_020964.2:c.7558-5T>C | NP_066015.2:n.7558-5T>C | |
| XM_011526123.1:c.7585-5T>C | XP_011524425.1:n.7585-5T>C | |
| XM_011526124.1:c.7584+2919T>C | XP_011524426.1:n.7584+2919T>C | |
| NM_020964.3:c.7558-5T>C MANE Select | NP_066015.2:n.7558-5T>C | |
| XM_017025890.2:c.7557+2919T>C | XP_016881379.1:n.7557+2919T>C | |
| XR_001753256.1:n.7533-5T>C | ||
| XR_001753257.1:n.7581-5T>C |