Linked Data
ClinVar Variation Id:
812631
ClinVar RCV Id:
RCV001003449
dbSNP Id:
rs2073824
gnomAD v2:
9-136132633-A-G
gnomAD v3:
9-133257246-A-G
gnomAD v4:
9-133257246-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257246A>G , CM000671.2:g.133257246A>G | GRCh38 |
| NC_000009.11:g.136132633A>G , CM000671.1:g.136132633A>G | GRCh37 |
| NC_000009.10:g.135122454A>G | NCBI36 |
| NG_006669.1:g.20422T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+163T>C | ||
| ENST00000647353.1:n.54-6094T>C | ||
| ENST00000651471.1:n.329+796T>C | ||
| ENST00000679909.1:c.28+17916T>C | ENSP00000506089.1:n.28+17916T>C | |
| ENST00000453660.3:n.385+163T>C | ||
| ENST00000538324.2:c.371+163T>C | ENSP00000483018.1:n.371+163T>C | |
| ENST00000611156.4:c.371+163T>C | ENSP00000483265.1:n.371+163T>C | |
| NM_020469.2:c.374+163T>C | NP_065202.2:n.374+163T>C | |
| NM_020469.3:c.374+163T>C | NP_065202.2:n.374+163T>C |