Linked Data
ClinVar Variation Id:
21337
ClinVar RCV Id:
RCV000020502
dbSNP Id:
rs113993973
ExAC:
14:51404519 G / A
gnomAD v2:
14-51404519-G-A
gnomAD v3:
14-50937801-G-A
gnomAD v4:
14-50937801-G-A
PubMed:
PMID:20301760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50937801G>A , CM000676.2:g.50937801G>A | GRCh38 |
| NC_000014.8:g.51404519G>A , CM000676.1:g.51404519G>A | GRCh37 |
| NC_000014.7:g.50474269G>A | NCBI36 |
| NG_012796.1:g.11730C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.280C>T MANE Select | ENSP00000216392.7:p.Arg94Ter | |
| ENST00000216392.7:c.280C>T | ENSP00000216392.7:p.Arg94Ter | |
| ENST00000530336.2:n.347C>T | ||
| ENST00000532462.5:c.280C>T | ENSP00000431657.1:p.Arg94Ter | |
| ENST00000544180.6:c.244-2616C>T | ENSP00000443787.1:n.244-2616C>T | |
| NM_001163940.1:c.244-2616C>T | NP_001157412.1:n.244-2616C>T | |
| NM_002863.4:c.280C>T | NP_002854.3:p.Arg94Ter | |
| NM_002863.5:c.280C>T MANE Select | NP_002854.3:p.Arg94Ter | |
| NM_001163940.2:c.244-2616C>T | NP_001157412.1:n.244-2616C>T |