Linked Data
ClinVar Variation Id:
327529
ClinVar RCV Id:
RCV000361743
dbSNP Id:
rs564406163
gnomAD v2:
18-56936116-G-C
gnomAD v3:
18-59268884-G-C
gnomAD v4:
18-59268884-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59268884G>C , CM000680.2:g.59268884G>C | GRCh38 |
| NC_000018.9:g.56936116G>C , CM000680.1:g.56936116G>C | GRCh37 |
| NC_000018.8:g.55087096G>C | NCBI36 |
| NG_013031.1:g.9510C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.*120C>G MANE Select | ENSP00000334813.3:n.*120C>G | |
| ENST00000256852.7:c.*592C>G | ENSP00000256852.7:n.*592C>G | |
| ENST00000334889.3:c.*120C>G | ENSP00000334813.3:n.*120C>G | |
| NM_013435.2:c.*120C>G | NP_038463.2:n.*120C>G | |
| NM_013435.3:c.*120C>G MANE Select | NP_038463.2:n.*120C>G |