Linked Data
ClinVar Variation Id:
2502783
ClinVar RCV Id:
RCV003229456
dbSNP Id:
rs761265900
ExAC:
8:19813551 C / G
gnomAD v2:
8-19813551-C-G
gnomAD v3:
8-19956040-C-G
gnomAD v4:
8-19956040-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19956040C>G , CM000670.2:g.19956040C>G | GRCh38 |
| NC_000008.10:g.19813551C>G , CM000670.1:g.19813551C>G | GRCh37 |
| NC_000008.9:g.19857831C>G | NCBI36 |
| NG_008855.1:g.21970C>G | |
| NG_008855.2:g.59324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.975C>G MANE Select | ENSP00000497642.1:p.Ser325Arg | |
| ENST00000650478.1:c.36C>G | ENSP00000497560.1:p.Ser12Arg | |
| ENST00000311322.8:c.975C>G | ENSP00000309757.6:p.Ser325Arg | |
| NM_000237.2:c.975C>G | NP_000228.1:p.Ser325Arg | |
| NM_000237.3:c.975C>G MANE Select | NP_000228.1:p.Ser325Arg |