Linked Data
ClinVar Variation Id:
13838
ClinVar RCV Id:
RCV000014850
dbSNP Id:
rs121917704
ExAC:
11:69631102 G / A
gnomAD v2:
11-69631102-G-A
gnomAD v3:
11-69816334-G-A
gnomAD v4:
11-69816334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69816334G>A , CM000673.2:g.69816334G>A | GRCh38 |
| NC_000011.9:g.69631102G>A , CM000673.1:g.69631102G>A | GRCh37 |
| NC_000011.8:g.69340039G>A | NCBI36 |
| NG_009016.1:g.8091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334134.4:c.310C>T MANE Select | ENSP00000334122.2:p.Arg104Ter | |
| ENST00000646078.1:n.157C>T | ||
| ENST00000334134.2:c.310C>T | ENSP00000334122.2:p.Arg104Ter | |
| NM_005247.2:c.310C>T | NP_005238.1:p.Arg104Ter | |
| NM_005247.3:c.310C>T | NP_005238.1:p.Arg104Ter | |
| NM_005247.4:c.310C>T MANE Select | NP_005238.1:p.Arg104Ter |