Linked Data
ClinVar Variation Id:
21713
dbSNP Id:
rs193302848
ExAC:
16:1411761 C / T
gnomAD v2:
16-1411761-C-T
gnomAD v3:
16-1361760-C-T
gnomAD v4:
16-1361760-C-T
COSMIC:
COSM5655139
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361760C>T , CM000678.2:g.1361760C>T | GRCh38 |
| NC_000016.9:g.1411761C>T , CM000678.1:g.1411761C>T | GRCh37 |
| NC_000016.8:g.1351762C>T | NCBI36 |
| NG_016985.1:g.14862C>T | |
| NG_033129.1:g.57945G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.295C>T | ||
| ENST00000529110.2:c.280C>T | ENSP00000435349.2:p.Arg94Ter | |
| ENST00000529957.6:n.254C>T | ||
| ENST00000683366.1:c.179-112C>T | ENSP00000507283.1:n.179-112C>T | |
| ENST00000683887.1:c.244C>T | ENSP00000506886.1:p.Arg82Ter | |
| ENST00000684100.1:n.116C>T | ||
| ENST00000684126.1:n.254C>T | ||
| ENST00000684688.1:n.821C>T | ||
| ENST00000204679.9:c.196C>T MANE Select | ENSP00000204679.4:p.Arg66Ter | |
| ENST00000204679.8:c.196C>T | ENSP00000204679.4:p.Arg66Ter | |
| ENST00000526820.5:c.*98C>T | ENSP00000434413.1:n.*98C>T | |
| ENST00000527076.1:n.1138C>T | ||
| ENST00000527168.5:n.270-112C>T | ||
| ENST00000529110.1:c.263C>T | ||
| ENST00000529957.5:n.295C>T | ||
| NM_032520.4:c.196C>T | NP_115909.1:p.Arg66Ter | |
| XM_017023782.1:c.244C>T | XP_016879271.1:p.Arg82Ter | |
| XM_017023783.1:c.-165C>T | XP_016879272.1:n.-165C>T | |
| NM_032520.5:c.196C>T MANE Select | NP_115909.1:p.Arg66Ter |