Linked Data
ClinVar Variation Id:
552618
ClinVar RCV Id:
RCV000667914
dbSNP Id:
rs1172384674
gnomAD v2:
9-104187160-C-A
gnomAD v4:
9-101424878-C-A
COSMIC:
COSM3652364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101424878C>A , CM000671.2:g.101424878C>A | GRCh38 |
| NC_000009.11:g.104187160C>A , CM000671.1:g.104187160C>A | GRCh37 |
| NC_000009.10:g.103226981C>A | NCBI36 |
| NG_012387.1:g.15903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.964G>T MANE Select | ENSP00000497767.1:p.Glu322Ter | |
| ENST00000648064.1:c.964G>T | ENSP00000497990.1:p.Glu322Ter | |
| ENST00000648758.1:c.964G>T | ENSP00000497731.1:p.Glu322Ter | |
| ENST00000649902.1:c.964G>T | ENSP00000497216.1:p.Glu322Ter | |
| ENST00000374855.8:c.964G>T | ENSP00000363988.4:p.Glu322Ter | |
| ENST00000616752.1:c.927G>T | ENSP00000481363.1:p.Arg309Ser | |
| NM_000035.3:c.964G>T | NP_000026.2:p.Glu322Ter | |
| NM_000035.4:c.964G>T MANE Select | NP_000026.2:p.Glu322Ter |