Linked Data
ClinVar Variation Id:
1196245
ClinVar RCV Id:
RCV001559651
dbSNP Id:
rs41263771
gnomAD v2:
2-189863836-C-A
gnomAD v3:
2-188999110-C-A
gnomAD v4:
2-188999110-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999110C>A , CM000664.2:g.188999110C>A | GRCh38 |
| NC_000002.11:g.189863836C>A , CM000664.1:g.189863836C>A | GRCh37 |
| NC_000002.10:g.189572081C>A | NCBI36 |
| NG_007404.1:g.29738C>A , LRG_3:g.29738C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1924-175C>A | ENSP00000415346.2:n.1924-175C>A | |
| ENST00000304636.9:c.2023-175C>A MANE Select | ENSP00000304408.4:n.2023-175C>A | |
| ENST00000304636.7:c.2023-175C>A | ENSP00000304408.3:n.2023-175C>A | |
| ENST00000317840.9:c.2023-175C>A | ENSP00000315243.6:n.2023-175C>A | |
| NM_000090.3:c.2023-175C>A , LRG_3t1:c.2023-175C>A | NP_000081.1:n.2023-175C>A | |
| NM_000090.4:c.2023-175C>A MANE Select | NP_000081.2:n.2023-175C>A |