Linked Data
ClinVar Variation Id:
991608
ClinVar RCV Id:
RCV001279849
dbSNP Id:
rs777601413
ExAC:
9:104188878 C / T
gnomAD v2:
9-104188878-C-T
gnomAD v3:
9-101426596-C-T
gnomAD v4:
9-101426596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101426596C>T , CM000671.2:g.101426596C>T | GRCh38 |
| NC_000009.11:g.104188878C>T , CM000671.1:g.104188878C>T | GRCh37 |
| NC_000009.10:g.103228699C>T | NCBI36 |
| NG_012387.1:g.14185G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.583G>A MANE Select | ENSP00000497767.1:p.Gly195Arg | |
| ENST00000648064.1:c.583G>A | ENSP00000497990.1:p.Gly195Arg | |
| ENST00000648758.1:c.583G>A | ENSP00000497731.1:p.Gly195Arg | |
| ENST00000649902.1:c.583G>A | ENSP00000497216.1:p.Gly195Arg | |
| ENST00000374855.8:c.583G>A | ENSP00000363988.4:p.Gly195Arg | |
| ENST00000468981.3:n.110G>A | ||
| ENST00000616752.1:c.583G>A | ENSP00000481363.1:p.Gly195Arg | |
| NM_000035.3:c.583G>A | NP_000026.2:p.Gly195Arg | |
| NM_000035.4:c.583G>A MANE Select | NP_000026.2:p.Gly195Arg |