Linked Data
ClinVar Variation Id:
304419
dbSNP Id:
rs746353651
ExAC:
11:32417869 A / G
gnomAD v2:
11-32417869-A-G
gnomAD v3:
11-32396323-A-G
gnomAD v4:
11-32396323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396323A>G , CM000673.2:g.32396323A>G | GRCh38 |
| NC_000011.9:g.32417869A>G , CM000673.1:g.32417869A>G | GRCh37 |
| NC_000011.8:g.32374445A>G | NCBI36 |
| NG_009272.1:g.44219T>C , LRG_525:g.44219T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1147T>C | ENSP00000331327.5:p.Tyr383His | |
| ENST00000379077.9:c.*382T>C | ENSP00000368368.5:n.*382T>C | |
| ENST00000379079.8:c.547T>C | ENSP00000368370.2:p.Tyr183His | |
| ENST00000448076.9:c.1198T>C | ENSP00000413452.5:p.Tyr400His | |
| ENST00000452863.10:c.1198T>C MANE Select | ENSP00000415516.5:p.Tyr400His | |
| ENST00000526685.2:n.652T>C | ||
| ENST00000639563.3:c.1147T>C | ENSP00000492269.3:p.Tyr383His | |
| ENST00000639907.2:n.341T>C | ||
| ENST00000640146.2:c.523T>C | ENSP00000491984.2:p.Tyr175His | |
| ENST00000650861.1:n.1779T>C | ||
| ENST00000651459.1:c.36-3568T>C | ||
| ENST00000651668.1:n.135T>C | ||
| ENST00000651794.1:n.941T>C | ||
| ENST00000651819.1:n.123T>C | ||
| ENST00000652579.1:n.358T>C | ||
| ENST00000652724.1:n.388T>C | ||
| ENST00000332351.7:c.1183T>C | ENSP00000331327.3:p.Tyr395His | |
| ENST00000379077.7:c.*382T>C | ENSP00000368368.3:n.*382T>C | |
| ENST00000379079.6:c.547T>C | ENSP00000368370.2:p.Tyr183His | |
| ENST00000448076.7:c.1183T>C | ENSP00000413452.3:p.Tyr395His | |
| ENST00000452863.7:c.1132T>C | ENSP00000415516.3:p.Tyr378His | |
| ENST00000526685.1:c.10T>C | ENSP00000436292.1:p.Tyr4His | |
| ENST00000527882.5:c.254T>C | ||
| ENST00000530998.5:c.496T>C | ENSP00000435307.1:p.Tyr166His | |
| NM_000378.4:c.1132T>C | NP_000369.3:p.Tyr378His | |
| NM_001198551.1:c.547T>C , LRG_525t2:c.547T>C | NP_001185480.1:p.Tyr183His | |
| NM_001198552.1:c.496T>C | NP_001185481.1:p.Tyr166His | |
| NM_024424.3:c.1183T>C | NP_077742.2:p.Tyr395His | |
| NM_024426.4:c.1183T>C | NP_077744.3:p.Tyr395His | |
| NM_000378.5:c.1147T>C | NP_000369.4:p.Tyr383His | |
| NM_024424.4:c.1198T>C | NP_077742.3:p.Tyr400His | |
| NM_024426.5:c.1198T>C | NP_077744.4:p.Tyr400His | |
| NM_001367854.1:c.10T>C | NP_001354783.1:p.Tyr4His | |
| NR_160306.1:n.1530T>C | ||
| NM_000378.6:c.1147T>C | NP_000369.4:p.Tyr383His | |
| NM_001198552.2:c.496T>C | NP_001185481.1:p.Tyr166His | |
| NM_024424.5:c.1198T>C | NP_077742.3:p.Tyr400His | |
| NM_024426.6:c.1198T>C MANE Select | NP_077744.4:p.Tyr400His |