Linked Data
ClinVar Variation Id:
327617
ClinVar RCV Id:
RCV000324504
dbSNP Id:
rs147056520
gnomAD v2:
18-57100060-T-C
gnomAD v3:
18-59432828-T-C
gnomAD v4:
18-59432828-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59432828T>C , CM000680.2:g.59432828T>C | GRCh38 |
| NC_000018.9:g.57100060T>C , CM000680.1:g.57100060T>C | GRCh37 |
| NC_000018.8:g.55251040T>C | NCBI36 |
| NG_016990.1:g.269585A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650467.2:c.*3080A>G | ENSP00000496897.2:n.*3080A>G | |
| ENST00000439986.9:c.*3080A>G MANE Select | ENSP00000404464.2:n.*3080A>G | |
| ENST00000649564.1:c.*3080A>G | ENSP00000497183.1:n.*3080A>G | |
| ENST00000398179.3:c.4091A>G | ENSP00000381241.3:n.4091A>G | |
| ENST00000439986.8:c.*3080A>G | ENSP00000404464.2:n.*3080A>G | |
| NM_133459.3:c.*3080A>G | NP_597716.1:n.*3080A>G | |
| XM_005266648.2:c.*3080A>G | XP_005266705.1:n.*3080A>G | |
| NM_133459.4:c.*3080A>G MANE Select | NP_597716.1:n.*3080A>G | |
| XM_024451091.1:c.*3080A>G | XP_024306859.1:n.*3080A>G |