Linked Data
ClinVar Variation Id:
3887
dbSNP Id:
rs121907986
ExAC:
5:74009409 C / T
gnomAD v2:
5-74009409-C-T
gnomAD v3:
5-74713584-C-T
gnomAD v4:
5-74713584-C-T
COSMIC:
COSM1070016
PubMed:
PMID:18758829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713584C>T , CM000667.2:g.74713584C>T | GRCh38 |
| NC_000005.9:g.74009409C>T , CM000667.1:g.74009409C>T | GRCh37 |
| NC_000005.8:g.74045165C>T | NCBI36 |
| NG_009770.1:g.33441C>T | |
| NG_009770.2:g.78562C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.850C>T MANE Select | ENSP00000261416.7:p.Arg284Ter | |
| ENST00000261416.11:c.850C>T | ENSP00000261416.7:p.Arg284Ter | |
| ENST00000504459.5:n.47C>T | ||
| ENST00000511181.5:c.175C>T | ENSP00000426285.1:p.Arg59Ter | |
| NM_000521.3:c.850C>T | NP_000512.1:p.Arg284Ter | |
| NM_001292004.1:c.175C>T | NP_001278933.1:p.Arg59Ter | |
| NM_000521.4:c.850C>T MANE Select | NP_000512.2:p.Arg284Ter | |
| NM_001292004.2:c.175C>T | NP_001278933.1:p.Arg59Ter |