Linked Data
ClinVar Variation Id:
2141656
ClinVar RCV Id:
RCV003060420
dbSNP Id:
rs754622612
ExAC:
8:10480113 C / G
gnomAD v2:
8-10480113-C-G
gnomAD v3:
8-10622603-C-G
gnomAD v4:
8-10622603-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622603C>G , CM000670.2:g.10622603C>G | GRCh38 |
| NC_000008.10:g.10480113C>G , CM000670.1:g.10480113C>G | GRCh37 |
| NC_000008.9:g.10517523C>G | NCBI36 |
| NG_028035.1:g.37505G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.599G>C MANE Select | ENSP00000371923.3:p.Ser200Thr | |
| ENST00000329335.3:n.849G>C | ||
| ENST00000382483.3:c.599G>C | ENSP00000371923.3:p.Ser200Thr | |
| NM_178857.5:c.599G>C | NP_849188.4:p.Ser200Thr | |
| NM_178857.6:c.599G>C MANE Select | NP_849188.4:p.Ser200Thr |