Linked Data
ClinVar Variation Id:
1341356
ClinVar RCV Id:
RCV001834560
dbSNP Id:
rs376163818
ExAC:
13:113803580 G / A
gnomAD v2:
13-113803580-G-A
gnomAD v3:
13-113149266-G-A
gnomAD v4:
13-113149266-G-A
COSMIC:
COSM4682173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149266G>A , CM000675.2:g.113149266G>A | GRCh38 |
| NC_000013.10:g.113803580G>A , CM000675.1:g.113803580G>A | GRCh37 |
| NC_000013.9:g.112851581G>A | NCBI36 |
| NG_009258.1:g.31468G>A , LRG_548:g.31468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1216G>A MANE Select | ENSP00000364709.3:p.Gly406Ser | |
| ENST00000375551.7:c.*207G>A | ENSP00000364701.3:n.*207G>A | |
| ENST00000375559.7:c.1216G>A | ENSP00000364709.3:p.Gly406Ser | |
| ENST00000409306.5:c.*207G>A | ENSP00000387092.1:n.*207G>A | |
| NM_000504.3:c.1216G>A , LRG_548t1:c.1216G>A | NP_000495.1:p.Gly406Ser | |
| NM_001312674.1:c.1084G>A | NP_001299603.1:p.Gly362Ser | |
| NM_001312675.1:c.*207G>A | NP_001299604.1:n.*207G>A | |
| NM_000504.4:c.1216G>A MANE Select | NP_000495.1:p.Gly406Ser | |
| NM_001312674.2:c.1084G>A | NP_001299603.1:p.Gly362Ser | |
| NM_001312675.2:c.*207G>A | NP_001299604.1:n.*207G>A |