Linked Data
ClinVar Variation Id:
2865227
ClinVar RCV Id:
RCV003597604
COSMIC:
COSM3652375
MyVariant Identifiers:
chr9:g.104193083C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101430801C>T , CM000671.2:g.101430801C>T | GRCh38 |
| NC_000009.11:g.104193083C>T , CM000671.1:g.104193083C>T | GRCh37 |
| NC_000009.10:g.103232904C>T | NCBI36 |
| NG_012387.1:g.9980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.87G>A MANE Select | ENSP00000497767.1:p.Gly29= | |
| ENST00000648064.1:c.87G>A | ENSP00000497990.1:p.Gly29= | |
| ENST00000648423.1:c.87G>A | ENSP00000497985.1:p.Gly29= | |
| ENST00000648758.1:c.87G>A | ENSP00000497731.1:p.Gly29= | |
| ENST00000648906.1:n.257G>A | ||
| ENST00000649902.1:c.87G>A | ENSP00000497216.1:p.Gly29= | |
| ENST00000650613.1:n.163G>A | ||
| ENST00000374855.8:c.87G>A | ENSP00000363988.4:p.Gly29= | |
| ENST00000616752.1:c.87G>A | ENSP00000481363.1:p.Gly29= | |
| NM_000035.3:c.87G>A | NP_000026.2:p.Gly29= | |
| NM_000035.4:c.87G>A MANE Select | NP_000026.2:p.Gly29= |