Linked Data
ClinVar Variation Id:
999738
ClinVar RCV Id:
RCV001295774
dbSNP Id:
rs1217209052
gnomAD v2:
12-65632450-T-C
gnomAD v4:
12-65238670-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238670T>C , CM000674.2:g.65238670T>C | GRCh38 |
| NC_000012.11:g.65632450T>C , CM000674.1:g.65632450T>C | GRCh37 |
| NC_000012.10:g.63918717T>C | NCBI36 |
| NG_016210.1:g.74100T>C | |
| NG_016210.2:g.74100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1777T>C MANE Select | ENSP00000308369.2:p.Cys593Arg | |
| ENST00000308330.2:c.1777T>C | ENSP00000308369.2:p.Cys593Arg | |
| NM_001167614.1:c.1774T>C | NP_001161086.1:p.Cys592Arg | |
| NM_014319.4:c.1777T>C | NP_055134.2:p.Cys593Arg | |
| NM_014319.5:c.1777T>C MANE Select | NP_055134.2:p.Cys593Arg | |
| NM_001167614.2:c.1774T>C | NP_001161086.1:p.Cys592Arg |