Linked Data
ClinVar Variation Id:
21336
ClinVar RCV Id:
RCV000020501
dbSNP Id:
rs113993988
ExAC:
14:51372193 A / G
gnomAD v2:
14-51372193-A-G
gnomAD v3:
14-50905475-A-G
gnomAD v4:
14-50905475-A-G
PubMed:
PMID:20301760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50905475A>G , CM000676.2:g.50905475A>G | GRCh38 |
| NC_000014.8:g.51372193A>G , CM000676.1:g.51372193A>G | GRCh37 |
| NC_000014.7:g.50441943A>G | NCBI36 |
| NG_012796.1:g.44056T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216392.8:c.2461T>C MANE Select | ENSP00000216392.7:p.Tyr821His | |
| ENST00000216392.7:c.2461T>C | ENSP00000216392.7:p.Tyr821His | |
| ENST00000532462.5:c.2379+2796T>C | ENSP00000431657.1:n.2379+2796T>C | |
| ENST00000544180.6:c.2359T>C | ENSP00000443787.1:p.Tyr787His | |
| NM_001163940.1:c.2359T>C | NP_001157412.1:p.Tyr787His | |
| NM_002863.4:c.2461T>C | NP_002854.3:p.Tyr821His | |
| NM_002863.5:c.2461T>C MANE Select | NP_002854.3:p.Tyr821His | |
| NM_001163940.2:c.2359T>C | NP_001157412.1:p.Tyr787His |