Linked Data
ClinVar Variation Id:
908969
ClinVar RCV Id:
RCV001159770
dbSNP Id:
rs1186295770
gnomAD v2:
6-97345697-C-A
gnomAD v4:
6-96897821-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96897821C>A , CM000668.2:g.96897821C>A | GRCh38 |
| NC_000006.11:g.97345697C>A , CM000668.1:g.97345697C>A | GRCh37 |
| NC_000006.10:g.97452418C>A | NCBI36 |
| NG_013379.1:g.5071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.-20G>T MANE Select | ENSP00000358272.4:n.-20G>T | |
| ENST00000316149.7:c.-20G>T | ENSP00000358272.4:n.-20G>T | |
| ENST00000489477.1:n.54G>T | ||
| NM_014165.3:c.-20G>T | NP_054884.1:n.-20G>T | |
| NM_014165.4:c.-20G>T MANE Select | NP_054884.1:n.-20G>T |