Linked Data
ClinVar Variation Id:
307051
ClinVar RCV Id:
RCV000370172
dbSNP Id:
rs886048922
gnomAD v2:
12-109994142-T-G
gnomAD v3:
12-109556337-T-G
gnomAD v4:
12-109556337-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109556337T>G , CM000674.2:g.109556337T>G | GRCh38 |
| NC_000012.11:g.109994142T>G , CM000674.1:g.109994142T>G | GRCh37 |
| NC_000012.10:g.108478525T>G | NCBI36 |
| NG_007096.1:g.22161A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*691A>C MANE Select | ENSP00000445920.1:n.*691A>C | |
| ENST00000545712.6:c.*691A>C | ENSP00000445920.1:n.*691A>C | |
| NM_052845.3:c.*691A>C | NP_443077.1:n.*691A>C | |
| NR_038118.1:n.1604A>C | ||
| NM_052845.4:c.*691A>C MANE Select | NP_443077.1:n.*691A>C | |
| NR_038118.2:n.1555A>C |