Linked Data
ClinVar Variation Id:
6092
dbSNP Id:
rs104893960
ExAC:
6:10877529 C / T
gnomAD v2:
6-10877529-C-T
gnomAD v3:
6-10877296-C-T
gnomAD v4:
6-10877296-C-T
COSMIC:
COSM3154970
PubMed:
PMID:15728199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877296C>T , CM000668.2:g.10877296C>T | GRCh38 |
| NC_000006.11:g.10877529C>T , CM000668.1:g.10877529C>T | GRCh37 |
| NC_000006.10:g.10985515C>T | NCBI36 |
| NG_008970.1:g.9570G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379491.5:c.187G>A MANE Select | ENSP00000368805.4:p.Gly63Ser | |
| ENST00000379491.4:c.187G>A | ENSP00000368805.4:p.Gly63Ser | |
| ENST00000480294.1:c.101-14217C>T | ENSP00000417929.1:n.101-14217C>T | |
| NM_004752.3:c.187G>A | NP_004743.1:p.Gly63Ser | |
| XM_011514991.1:c.187G>A | XP_011513293.1:p.Gly63Ser | |
| NM_004752.4:c.187G>A MANE Select | NP_004743.1:p.Gly63Ser |