Linked Data
ClinVar Variation Id:
4853
ClinVar RCV Id:
RCV003555920
dbSNP Id:
rs104893741
gnomAD v4:
3-138946068-G-A
COSMIC:
COSM5708488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946068G>A , CM000665.2:g.138946068G>A | GRCh38 |
| NC_000003.11:g.138664910G>A , CM000665.1:g.138664910G>A | GRCh37 |
| NC_000003.10:g.140147600G>A | NCBI36 |
| NG_012454.1:g.6073C>T | |
| NG_029796.1:g.3835G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.655C>T MANE Select | ENSP00000497217.1:p.Gln219Ter | |
| ENST00000330315.3:c.655C>T | ENSP00000333188.3:p.Gln219Ter | |
| NM_023067.3:c.655C>T | NP_075555.1:p.Gln219Ter | |
| NM_023067.4:c.655C>T MANE Select | NP_075555.1:p.Gln219Ter |