Linked Data
ClinVar Variation Id:
265782
dbSNP Id:
rs886039782
gnomAD v3:
5-179823038-C-T
gnomAD v4:
5-179823038-C-T
COSMIC:
COSM1066710
PubMed:
PMID:27545679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179823038C>T , CM000667.2:g.179823038C>T | GRCh38 |
| NC_000005.9:g.179250038C>T , CM000667.1:g.179250038C>T | GRCh37 |
| NC_000005.8:g.179182644C>T | NCBI36 |
| NG_011342.1:g.21651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.286C>T MANE Select | ENSP00000374455.4:p.Arg96Ter | |
| ENST00000360718.5:c.34C>T | ENSP00000353944.5:p.Arg12Ter | |
| ENST00000389805.8:c.286C>T | ENSP00000374455.4:p.Arg96Ter | |
| ENST00000422245.5:c.34C>T | ENSP00000394534.1:p.Arg12Ter | |
| ENST00000453046.5:c.*221C>T | ENSP00000405061.1:n.*221C>T | |
| ENST00000464493.5:n.181C>T | ||
| ENST00000481335.5:n.436C>T | ||
| ENST00000504627.1:c.355C>T | ENSP00000425957.1:p.Arg119Ter | |
| ENST00000508284.5:c.*8C>T | ENSP00000424195.1:n.*8C>T | |
| ENST00000510187.5:c.286C>T | ENSP00000424477.1:p.Arg96Ter | |
| ENST00000514093.5:c.34C>T | ENSP00000427308.1:p.Arg12Ter | |
| NM_001142298.1:c.34C>T | NP_001135770.1:p.Arg12Ter | |
| NM_001142299.1:c.34C>T | NP_001135771.1:p.Arg12Ter | |
| NM_003900.4:c.286C>T | NP_003891.1:p.Arg96Ter | |
| XM_017010010.1:c.34C>T | XP_016865499.1:p.Arg12Ter | |
| NM_003900.5:c.286C>T MANE Select | NP_003891.1:p.Arg96Ter | |
| NM_001142298.2:c.34C>T | NP_001135770.1:p.Arg12Ter | |
| NM_001142299.2:c.34C>T | NP_001135771.1:p.Arg12Ter |