Linked Data
ClinVar Variation Id:
30965
dbSNP Id:
rs387907072
ExAC:
5:126776517 T / C
gnomAD v2:
5-126776517-T-C
gnomAD v3:
5-127440825-T-C
gnomAD v4:
5-127440825-T-C
COSMIC:
COSM5060599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127440825T>C , CM000667.2:g.127440825T>C | GRCh38 |
| NC_000005.9:g.126776517T>C , CM000667.1:g.126776517T>C | GRCh37 |
| NC_000005.8:g.126804416T>C | NCBI36 |
| NG_032072.1:g.155062T>C | |
| NG_032072.2:g.155062T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.2320T>C MANE Select | ENSP00000423354.2:p.Cys774Arg | |
| ENST00000274473.6:c.2320T>C | ENSP00000274473.6:p.Cys774Arg | |
| ENST00000503335.6:c.2320T>C | ENSP00000423354.2:p.Cys774Arg | |
| ENST00000506709.1:n.561T>C | ||
| NM_001256545.1:c.2320T>C | NP_001243474.1:p.Cys774Arg | |
| NM_032446.2:c.2320T>C | NP_115822.1:p.Cys774Arg | |
| XM_011543692.1:c.2320T>C | XP_011541994.1:p.Cys774Arg | |
| XM_011543693.1:c.2320T>C | XP_011541995.1:p.Cys774Arg | |
| XM_011543694.1:c.2320T>C | XP_011541996.1:p.Cys774Arg | |
| XM_017009987.1:c.2485T>C | XP_016865476.1:p.Cys829Arg | |
| XM_017009988.1:c.1180T>C | XP_016865477.1:p.Cys394Arg | |
| NM_001256545.2:c.2320T>C MANE Select | NP_001243474.1:p.Cys774Arg | |
| NM_032446.3:c.2320T>C | NP_115822.1:p.Cys774Arg |