Linked Data
ClinVar Variation Id:
326374
ClinVar RCV Id:
RCV000303878
dbSNP Id:
rs191171295
gnomAD v2:
18-28646964-G-A
gnomAD v3:
18-31066998-G-A
gnomAD v4:
18-31066998-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31066998G>A , CM000680.2:g.31066998G>A | GRCh38 |
| NC_000018.9:g.28646964G>A , CM000680.1:g.28646964G>A | GRCh37 |
| NC_000018.8:g.26900962G>A | NCBI36 |
| NG_008208.2:g.40428C>T , LRG_400:g.40428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.*1017C>T | ENSP00000507826.1:n.*1017C>T | |
| ENST00000251081.8:c.*1225C>T | ENSP00000251081.6:n.*1225C>T | |
| ENST00000280904.11:c.*1017C>T MANE Select | ENSP00000280904.6:n.*1017C>T | |
| ENST00000648081.1:c.*1017C>T | ENSP00000497441.1:n.*1017C>T | |
| ENST00000251081.6:c.*1225C>T | ENSP00000251081.6:n.*1225C>T | |
| ENST00000280904.10:c.*1017C>T | ENSP00000280904.6:n.*1017C>T | |
| NM_004949.4:c.*1225C>T | NP_004940.1:n.*1225C>T | |
| NM_024422.4:c.*1017C>T | NP_077740.1:n.*1017C>T | |
| XM_005258206.3:c.*1017C>T | XP_005258263.1:n.*1017C>T | |
| XM_005258206.4:c.*1017C>T | XP_005258263.1:n.*1017C>T | |
| NM_004949.5:c.*1225C>T | NP_004940.1:n.*1225C>T | |
| NM_024422.6:c.*1017C>T MANE Select | NP_077740.1:n.*1017C>T |