Linked Data
ClinVar Variation Id:
360740
ClinVar RCV Id:
RCV000272659
dbSNP Id:
rs1194182
gnomAD v2:
7-80231504-G-C
gnomAD v3:
7-80602188-G-C
gnomAD v4:
7-80602188-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80602188G>C , CM000669.2:g.80602188G>C | GRCh38 |
| NC_000007.13:g.80231504G>C , CM000669.1:g.80231504G>C | GRCh37 |
| NC_000007.12:g.80069440G>C | NCBI36 |
| NG_008192.1:g.5001G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309881.11:c.-375G>C | ENSP00000308165.7:n.-375G>C | |
| ENST00000435819.5:c.-183-43900G>C | ENSP00000399421.1:n.-183-43900G>C | |
| ENST00000480599.6:n.39G>C | ||
| NM_001001547.2:c.-375G>C | NP_001001547.1:n.-375G>C |