Linked Data
ClinVar Variation Id:
1616410
ClinVar RCV Id:
RCV002084281
dbSNP Id:
rs2144788686
gnomAD v4:
18-31070854-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31070854G>T , CM000680.2:g.31070854G>T | GRCh38 |
| NC_000018.9:g.28650820G>T , CM000680.1:g.28650820G>T | GRCh37 |
| NC_000018.8:g.26904818G>T | NCBI36 |
| NG_008208.2:g.36572C>A , LRG_400:g.36572C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1697-4C>A | ENSP00000507826.1:n.1697-4C>A | |
| ENST00000251081.8:c.2126-4C>A | ENSP00000251081.6:n.2126-4C>A | |
| ENST00000280904.11:c.2126-4C>A MANE Select | ENSP00000280904.6:n.2126-4C>A | |
| ENST00000648081.1:c.1697-4C>A | ENSP00000497441.1:n.1697-4C>A | |
| ENST00000251081.6:c.2126-4C>A | ENSP00000251081.6:n.2126-4C>A | |
| ENST00000280904.10:c.2126-4C>A | ENSP00000280904.6:n.2126-4C>A | |
| NM_004949.4:c.2126-4C>A | NP_004940.1:n.2126-4C>A | |
| NM_024422.4:c.2126-4C>A | NP_077740.1:n.2126-4C>A | |
| XM_005258206.3:c.1697-4C>A | XP_005258263.1:n.1697-4C>A | |
| XM_005258206.4:c.1697-4C>A | XP_005258263.1:n.1697-4C>A | |
| NM_004949.5:c.2126-4C>A | NP_004940.1:n.2126-4C>A | |
| NM_024422.6:c.2126-4C>A MANE Select | NP_077740.1:n.2126-4C>A |