Linked Data
ClinVar Variation Id:
161718
ClinVar RCV Id:
RCV000149254
dbSNP Id:
rs193921038
COSMIC:
COSM1179020
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.67297652G>A , CM000674.2:g.67297652G>A | GRCh38 |
| NC_000012.11:g.67691432G>A , CM000674.1:g.67691432G>A | GRCh37 |
| NC_000012.10:g.65977699G>A | NCBI36 |
| NG_051239.1:g.33372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545606.6:c.737G>A MANE Select | ENSP00000442318.1:p.Gly246Asp | |
| ENST00000535146.1:n.448G>A | ||
| ENST00000540319.5:c.383G>A | ENSP00000445794.1:p.Gly128Asp | |
| ENST00000545606.5:c.737G>A | ENSP00000442318.1:p.Gly246Asp | |
| NM_018448.4:c.737G>A | NP_060918.2:p.Gly246Asp | |
| NM_001329674.1:c.665G>A | NP_001316603.1:p.Gly222Asp | |
| NM_001329675.1:c.665G>A | NP_001316604.1:p.Gly222Asp | |
| NM_001329676.1:c.638G>A | NP_001316605.1:p.Gly213Asp | |
| NM_018448.5:c.737G>A MANE Select | NP_060918.2:p.Gly246Asp | |
| NM_001329674.2:c.665G>A | NP_001316603.1:p.Gly222Asp | |
| NM_001329675.2:c.665G>A | NP_001316604.1:p.Gly222Asp | |
| NM_001329676.2:c.638G>A | NP_001316605.1:p.Gly213Asp |