Linked Data
ClinVar Variation Id:
1605583
ClinVar RCV Id:
RCV002160080
dbSNP Id:
rs2118358644
MyVariant Identifiers:
chr9:g.104190779T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101428497T>C , CM000671.2:g.101428497T>C | GRCh38 |
| NC_000009.11:g.104190779T>C , CM000671.1:g.104190779T>C | GRCh37 |
| NC_000009.10:g.103230600T>C | NCBI36 |
| NG_012387.1:g.12284A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.351A>G MANE Select | ENSP00000497767.1:p.Ala117= | |
| ENST00000648064.1:c.351A>G | ENSP00000497990.1:p.Ala117= | |
| ENST00000648758.1:c.351A>G | ENSP00000497731.1:p.Ala117= | |
| ENST00000649902.1:c.351A>G | ENSP00000497216.1:p.Ala117= | |
| ENST00000374855.8:c.351A>G | ENSP00000363988.4:p.Ala117= | |
| ENST00000468981.3:n.67+1312A>G | ||
| ENST00000616752.1:c.351A>G | ENSP00000481363.1:p.Ala117= | |
| NM_000035.3:c.351A>G | NP_000026.2:p.Ala117= | |
| NM_000035.4:c.351A>G MANE Select | NP_000026.2:p.Ala117= |