Linked Data
ClinVar Variation Id:
12062
ClinVar RCV Id:
RCV000012842
dbSNP Id:
rs121964942
gnomAD v4:
13-113149014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149014G>A , CM000675.2:g.113149014G>A | GRCh38 |
| NC_000013.10:g.113803328G>A , CM000675.1:g.113803328G>A | GRCh37 |
| NC_000013.9:g.112851329G>A | NCBI36 |
| NG_009258.1:g.31216G>A , LRG_548:g.31216G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.964G>A MANE Select | ENSP00000364709.3:p.Asp322Asn | |
| ENST00000375551.7:c.954G>A | ENSP00000364701.3:p.Ser318= | |
| ENST00000375559.7:c.964G>A | ENSP00000364709.3:p.Asp322Asn | |
| ENST00000409306.5:c.960G>A | ENSP00000387092.1:p.Ser320= | |
| NM_000504.3:c.964G>A , LRG_548t1:c.964G>A | NP_000495.1:p.Asp322Asn | |
| NM_001312674.1:c.832G>A | NP_001299603.1:p.Asp278Asn | |
| NM_001312675.1:c.954G>A | NP_001299604.1:p.Ser318= | |
| NM_000504.4:c.964G>A MANE Select | NP_000495.1:p.Asp322Asn | |
| NM_001312674.2:c.832G>A | NP_001299603.1:p.Asp278Asn | |
| NM_001312675.2:c.954G>A | NP_001299604.1:p.Ser318= |