Linked Data
ClinVar Variation Id:
310342
ClinVar RCV Id:
RCV000403702
dbSNP Id:
rs762377090
gnomAD v2:
12-69747330-G-A
gnomAD v3:
12-69353550-G-A
gnomAD v4:
12-69353550-G-A
COSMIC:
COSN9474395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353550G>A , CM000674.2:g.69353550G>A | GRCh38 |
| NC_000012.11:g.69747330G>A , CM000674.1:g.69747330G>A | GRCh37 |
| NC_000012.10:g.68033597G>A | NCBI36 |
| NG_008195.1:g.10197G>A , LRG_768:g.10197G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*331G>A MANE Select | ENSP00000261267.2:n.*331G>A | |
| ENST00000261267.6:c.*331G>A | ENSP00000261267.2:n.*331G>A | |
| NM_000239.2:c.*331G>A , LRG_768t1:c.*331G>A | NP_000230.1:n.*331G>A | |
| NM_000239.3:c.*331G>A MANE Select | NP_000230.1:n.*331G>A |