Linked Data
ClinVar Variation Id:
30980
dbSNP Id:
rs369586696
ExAC:
9:104184159 A / G
gnomAD v2:
9-104184159-A-G
gnomAD v3:
9-101421877-A-G
gnomAD v4:
9-101421877-A-G
PubMed:
PMID:20848650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421877A>G , CM000671.2:g.101421877A>G | GRCh38 |
| NC_000009.11:g.104184159A>G , CM000671.1:g.104184159A>G | GRCh37 |
| NC_000009.10:g.103223980A>G | NCBI36 |
| NG_012387.1:g.18904T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.1027T>C MANE Select | ENSP00000497767.1:p.Tyr343His | |
| ENST00000648064.1:c.1027T>C | ENSP00000497990.1:p.Tyr343His | |
| ENST00000648758.1:c.1027T>C | ENSP00000497731.1:p.Tyr343His | |
| ENST00000374855.8:c.1027T>C | ENSP00000363988.4:p.Tyr343His | |
| ENST00000616752.1:c.*39T>C | ENSP00000481363.1:n.*39T>C | |
| NM_000035.3:c.1027T>C | NP_000026.2:p.Tyr343His | |
| NM_000035.4:c.1027T>C MANE Select | NP_000026.2:p.Tyr343His |