Linked Data
ClinVar Variation Id:
757097
ClinVar RCV Id:
RCV000934665
dbSNP Id:
rs143860838
ExAC:
12:65639991 C / G
gnomAD v2:
12-65639991-C-G
gnomAD v3:
12-65246211-C-G
gnomAD v4:
12-65246211-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65246211C>G , CM000674.2:g.65246211C>G | GRCh38 |
| NC_000012.11:g.65639991C>G , CM000674.1:g.65639991C>G | GRCh37 |
| NC_000012.10:g.63926258C>G | NCBI36 |
| NG_016210.1:g.81641C>G | |
| NG_016210.2:g.81641C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2622C>G MANE Select | ENSP00000308369.2:p.Arg874= | |
| ENST00000308330.2:c.2622C>G | ENSP00000308369.2:p.Arg874= | |
| ENST00000539442.1:n.604C>G | ||
| ENST00000544506.1:n.342C>G | ||
| ENST00000545026.1:n.440C>G | ||
| NM_001167614.1:c.2619C>G | NP_001161086.1:p.Arg873= | |
| NM_014319.4:c.2622C>G | NP_055134.2:p.Arg874= | |
| NM_014319.5:c.2622C>G MANE Select | NP_055134.2:p.Arg874= | |
| NM_001167614.2:c.2619C>G | NP_001161086.1:p.Arg873= |