Linked Data
ClinVar Variation Id:
327679
ClinVar RCV Id:
RCV000283721
dbSNP Id:
rs78905013
gnomAD v2:
18-57102100-G-A
gnomAD v3:
18-59434868-G-A
gnomAD v4:
18-59434868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59434868G>A , CM000680.2:g.59434868G>A | GRCh38 |
| NC_000018.9:g.57102100G>A , CM000680.1:g.57102100G>A | GRCh37 |
| NC_000018.8:g.55253080G>A | NCBI36 |
| NG_016990.1:g.267545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*1040C>T | ENSP00000496897.2:n.*1040C>T | |
| ENST00000695903.1:c.*1340C>T | ENSP00000512255.1:n.*1340C>T | |
| ENST00000695904.1:c.*1066C>T | ENSP00000512259.1:n.*1066C>T | |
| ENST00000439986.9:c.*1040C>T MANE Select | ENSP00000404464.2:n.*1040C>T | |
| ENST00000649564.1:c.*1040C>T | ENSP00000497183.1:n.*1040C>T | |
| ENST00000398179.3:c.2051C>T | ENSP00000381241.3:n.2051C>T | |
| ENST00000439986.8:c.*1040C>T | ENSP00000404464.2:n.*1040C>T | |
| NM_133459.3:c.*1040C>T | NP_597716.1:n.*1040C>T | |
| XM_005266648.2:c.*1040C>T | XP_005266705.1:n.*1040C>T | |
| NM_133459.4:c.*1040C>T MANE Select | NP_597716.1:n.*1040C>T | |
| XM_017025556.1:c.*1066C>T | XP_016881045.1:n.*1066C>T | |
| XM_017025557.1:c.*1066C>T | XP_016881046.1:n.*1066C>T | |
| XM_024451091.1:c.*1040C>T | XP_024306859.1:n.*1040C>T | |
| XR_001753142.1:n.3283C>T |