Linked Data
ClinVar Variation Id:
30754
ClinVar RCV Id:
RCV000023733
dbSNP Id:
rs387907000
gnomAD v4:
19-3590154-G-A
COSMIC:
COSM5587871
PubMed:
PMID:21326233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3590154G>A , CM000681.2:g.3590154G>A | GRCh38 |
| NC_000019.9:g.3590152G>A , CM000681.1:g.3590152G>A | GRCh37 |
| NC_000019.8:g.3541152G>A | NCBI36 |
| NG_031943.1:g.9584G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644452.3:c.903G>A MANE Select | ENSP00000493901.2:p.Trp301Ter | |
| ENST00000644946.1:c.916G>A | ENSP00000495068.1:p.Gly306Ser | |
| ENST00000322315.5:c.903G>A | ENSP00000319254.5:p.Trp301Ter | |
| NM_133261.2:c.903G>A | NP_573568.1:p.Trp301Ter | |
| XM_005259492.2:c.916G>A | XP_005259549.1:p.Gly306Ser | |
| XM_005259492.3:c.916G>A | XP_005259549.1:p.Gly306Ser | |
| NM_133261.3:c.903G>A MANE Select | NP_573568.1:p.Trp301Ter |