Linked Data
ClinVar Variation Id:
1283941
ClinVar RCV Id:
RCV001698599
dbSNP Id:
rs854563
gnomAD v2:
7-94948009-G-A
gnomAD v3:
7-95318697-G-A
gnomAD v4:
7-95318697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95318697G>A , CM000669.2:g.95318697G>A | GRCh38 |
| NC_000007.13:g.94948009G>A , CM000669.1:g.94948009G>A | GRCh37 |
| NC_000007.12:g.94785945G>A | NCBI36 |
| NG_008779.1:g.10876C>T | |
| NG_008779.2:g.11010C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222381.8:c.75-304C>T MANE Select | ENSP00000222381.3:n.75-304C>T | |
| ENST00000222381.7:c.75-304C>T | ENSP00000222381.3:n.75-304C>T | |
| ENST00000433729.1:c.75-304C>T | ENSP00000407359.1:n.75-304C>T | |
| NM_000446.5:c.75-304C>T | NP_000437.3:n.75-304C>T | |
| NM_000446.6:c.75-304C>T | NP_000437.3:n.75-304C>T | |
| NM_000446.7:c.75-304C>T MANE Select | NP_000437.3:n.75-304C>T |