Linked Data
ClinVar Variation Id:
2294952
ClinVar RCV Id:
RCV004144819
dbSNP Id:
rs201862024
ExAC:
10:72517763 T / C
gnomAD v2:
10-72517763-T-C
gnomAD v3:
10-70758007-T-C
gnomAD v4:
10-70758007-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758007T>C , CM000672.2:g.70758007T>C | GRCh38 |
| NC_000010.10:g.72517763T>C , CM000672.1:g.72517763T>C | GRCh37 |
| NC_000010.9:g.72187769T>C | NCBI36 |
| NG_042147.1:g.90205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.2983T>C MANE Select | ENSP00000362303.1:p.Cys995Arg | |
| ENST00000373207.1:c.2983T>C | ENSP00000362303.1:p.Cys995Arg | |
| ENST00000373208.5:c.2992T>C | ENSP00000362304.1:p.Cys998Arg | |
| NM_080722.3:c.2983T>C | NP_542453.2:p.Cys995Arg | |
| NM_139155.2:c.2992T>C | NP_631894.2:p.Cys998Arg | |
| XM_011539300.1:c.2482T>C | XP_011537602.1:p.Cys828Arg | |
| XM_011539301.1:c.2056T>C | XP_011537603.1:p.Cys686Arg | |
| XM_011539302.1:c.2056T>C | XP_011537604.1:p.Cys686Arg | |
| XM_011539308.1:c.*62T>C | XP_011537610.1:n.*62T>C | |
| XM_011539309.1:c.1552T>C | XP_011537611.1:p.Cys518Arg | |
| NM_080722.4:c.2983T>C MANE Select | NP_542453.2:p.Cys995Arg | |
| NM_139155.3:c.2992T>C | NP_631894.2:p.Cys998Arg | |
| XM_011539300.2:c.2482T>C | XP_011537602.1:p.Cys828Arg | |
| XM_011539301.2:c.2056T>C | XP_011537603.1:p.Cys686Arg | |
| XM_011539302.2:c.2056T>C | XP_011537604.1:p.Cys686Arg | |
| XM_011539308.2:c.*62T>C | XP_011537610.1:n.*62T>C |