Linked Data
ClinVar Variation Id:
326372
ClinVar RCV Id:
RCV000342982
dbSNP Id:
rs186055396
gnomAD v2:
18-28646877-C-T
gnomAD v3:
18-31066911-C-T
gnomAD v4:
18-31066911-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31066911C>T , CM000680.2:g.31066911C>T | GRCh38 |
| NC_000018.9:g.28646877C>T , CM000680.1:g.28646877C>T | GRCh37 |
| NC_000018.8:g.26900875C>T | NCBI36 |
| NG_008208.2:g.40515G>A , LRG_400:g.40515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.*1104G>A | ENSP00000507826.1:n.*1104G>A | |
| ENST00000251081.8:c.*1312G>A | ENSP00000251081.6:n.*1312G>A | |
| ENST00000280904.11:c.*1104G>A MANE Select | ENSP00000280904.6:n.*1104G>A | |
| ENST00000648081.1:c.*1104G>A | ENSP00000497441.1:n.*1104G>A | |
| ENST00000251081.6:c.*1312G>A | ENSP00000251081.6:n.*1312G>A | |
| ENST00000280904.10:c.*1104G>A | ENSP00000280904.6:n.*1104G>A | |
| NM_004949.4:c.*1312G>A | NP_004940.1:n.*1312G>A | |
| NM_024422.4:c.*1104G>A | NP_077740.1:n.*1104G>A | |
| XM_005258206.3:c.*1104G>A | XP_005258263.1:n.*1104G>A | |
| XM_005258206.4:c.*1104G>A | XP_005258263.1:n.*1104G>A | |
| NM_004949.5:c.*1312G>A | NP_004940.1:n.*1312G>A | |
| NM_024422.6:c.*1104G>A MANE Select | NP_077740.1:n.*1104G>A |