Linked Data
ClinVar Variation Id:
12874
ClinVar RCV Id:
RCV000013734
dbSNP Id:
rs121917877
ExAC:
16:1129586 C / T
gnomAD v2:
16-1129586-C-T
gnomAD v3:
16-1079586-C-T
gnomAD v4:
16-1079586-C-T
MyVariant Identifiers:
chr16:g.1129586C>T (hg19)
chr16:g.1129586_1129587delinsTG (hg19)
chr16:g.1079586C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1079586C>T , CM000678.2:g.1079586C>T | GRCh38 |
| NC_000016.9:g.1129586C>T , CM000678.1:g.1129586C>T | GRCh37 |
| NC_000016.8:g.1069587C>T | NCBI36 |
| NG_016744.1:g.11831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293897.7:c.718C>T | ENSP00000293897.4:p.Arg240Trp | |
| ENST00000711615.1:c.718C>T | ENSP00000518810.1:p.Arg240Trp | |
| ENST00000711616.1:c.681+37C>T | ENSP00000518811.1:n.681+37C>T | |
| ENST00000293897.6:c.718C>T | ENSP00000293897.4:p.Arg240Trp | |
| ENST00000689027.1:c.718C>T MANE Select | ENSP00000508487.1:p.Arg240Trp | |
| ENST00000293897.5:c.718C>T | ENSP00000293897.4:p.Arg240Trp | |
| NM_001053.3:c.718C>T | NP_001044.1:p.Arg240Trp | |
| NM_001172560.1:c.718C>T | NP_001166031.1:p.Arg240Trp | |
| XM_006720936.2:c.718C>T | XP_006720999.1:p.Arg240Trp | |
| NM_001053.4:c.718C>T | NP_001044.1:p.Arg240Trp | |
| NM_001172560.3:c.718C>T MANE Select | NP_001166031.1:p.Arg240Trp |