Linked Data
ClinVar Variation Id:
326388
ClinVar RCV Id:
RCV000282953
dbSNP Id:
rs147458812
gnomAD v2:
18-28647796-T-C
gnomAD v3:
18-31067830-T-C
gnomAD v4:
18-31067830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31067830T>C , CM000680.2:g.31067830T>C | GRCh38 |
| NC_000018.9:g.28647796T>C , CM000680.1:g.28647796T>C | GRCh37 |
| NC_000018.8:g.26901794T>C | NCBI36 |
| NG_008208.2:g.39596A>G , LRG_400:g.39596A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.*185A>G | ENSP00000507826.1:n.*185A>G | |
| ENST00000251081.8:c.*393A>G | ENSP00000251081.6:n.*393A>G | |
| ENST00000280904.11:c.*185A>G MANE Select | ENSP00000280904.6:n.*185A>G | |
| ENST00000648081.1:c.*185A>G | ENSP00000497441.1:n.*185A>G | |
| ENST00000251081.6:c.*393A>G | ENSP00000251081.6:n.*393A>G | |
| ENST00000280904.10:c.*185A>G | ENSP00000280904.6:n.*185A>G | |
| NM_004949.4:c.*393A>G | NP_004940.1:n.*393A>G | |
| NM_024422.4:c.*185A>G | NP_077740.1:n.*185A>G | |
| XM_005258206.3:c.*185A>G | XP_005258263.1:n.*185A>G | |
| XM_005258206.4:c.*185A>G | XP_005258263.1:n.*185A>G | |
| NM_004949.5:c.*393A>G | NP_004940.1:n.*393A>G | |
| NM_024422.6:c.*185A>G MANE Select | NP_077740.1:n.*185A>G |