Linked Data
ClinVar Variation Id:
12056
ClinVar RCV Id:
RCV000012836
dbSNP Id:
rs121964947
gnomAD v2:
13-113803376-G-A
gnomAD v3:
13-113149062-G-A
gnomAD v4:
13-113149062-G-A
COSMIC:
COSM5772983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149062G>A , CM000675.2:g.113149062G>A | GRCh38 |
| NC_000013.10:g.113803376G>A , CM000675.1:g.113803376G>A | GRCh37 |
| NC_000013.9:g.112851377G>A | NCBI36 |
| NG_009258.1:g.31264G>A , LRG_548:g.31264G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.1012G>A MANE Select | ENSP00000364709.3:p.Val338Met | |
| ENST00000375551.7:c.*3G>A | ENSP00000364701.3:n.*3G>A | |
| ENST00000375559.7:c.1012G>A | ENSP00000364709.3:p.Val338Met | |
| ENST00000409306.5:c.*3G>A | ENSP00000387092.1:n.*3G>A | |
| NM_000504.3:c.1012G>A , LRG_548t1:c.1012G>A | NP_000495.1:p.Val338Met | |
| NM_001312674.1:c.880G>A | NP_001299603.1:p.Val294Met | |
| NM_001312675.1:c.*3G>A | NP_001299604.1:n.*3G>A | |
| NM_000504.4:c.1012G>A MANE Select | NP_000495.1:p.Val338Met | |
| NM_001312674.2:c.880G>A | NP_001299603.1:p.Val294Met | |
| NM_001312675.2:c.*3G>A | NP_001299604.1:n.*3G>A |