Linked Data
ClinVar Variation Id:
1691870
ClinVar RCV Id:
RCV002255246
dbSNP Id:
rs1648869873
gnomAD v4:
1-40080441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080441A>G , CM000663.2:g.40080441A>G | GRCh38 |
| NC_000001.10:g.40546113A>G , CM000663.1:g.40546113A>G | GRCh37 |
| NC_000001.9:g.40318700A>G | NCBI36 |
| NG_009192.1:g.22030T>C , LRG_690:g.22030T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.580T>C | ENSP00000394863.4:p.Tyr194His | |
| ENST00000439754.6:c.583T>C | ENSP00000403207.2:p.Tyr195His | |
| ENST00000449045.7:c.274T>C | ENSP00000392293.2:p.Tyr92His | |
| ENST00000527311.7:c.352T>C | ENSP00000436695.3:p.Tyr118His | |
| ENST00000530076.6:c.-75T>C | ENSP00000434007.1:n.-75T>C | |
| ENST00000530704.6:c.*206T>C | ENSP00000431655.1:n.*206T>C | |
| ENST00000641083.1:c.561T>C | ||
| ENST00000641236.1:n.820T>C | ||
| ENST00000641319.1:c.583T>C | ENSP00000493128.1:p.Tyr195His | |
| ENST00000641381.1:c.149-3528T>C | ||
| ENST00000641471.1:c.670T>C | ENSP00000493146.1:p.Tyr224His | |
| ENST00000641691.1:c.*435T>C | ENSP00000492910.1:n.*435T>C | |
| ENST00000641924.1:c.*12T>C | ENSP00000493063.1:n.*12T>C | |
| ENST00000642050.2:c.583T>C MANE Select | ENSP00000493153.1:p.Tyr195His | |
| ENST00000372779.8:c.670T>C | ENSP00000361865.4:p.Tyr224His | |
| ENST00000433473.7:c.583T>C | ENSP00000394863.3:p.Tyr195His | |
| ENST00000439754.5:c.268T>C | ENSP00000403207.1:p.Tyr90His | |
| ENST00000449045.6:c.274T>C | ENSP00000392293.2:p.Tyr92His | |
| ENST00000527311.6:c.358T>C | ENSP00000436695.2:p.Tyr120His | |
| ENST00000529905.5:c.583T>C | ENSP00000432053.1:p.Tyr195His | |
| ENST00000530076.5:c.-75T>C | ENSP00000434007.1:n.-75T>C | |
| ENST00000530704.5:c.*206T>C | ENSP00000431655.1:n.*206T>C | |
| NM_000310.3:c.583T>C , LRG_690t1:c.583T>C | NP_000301.1:p.Tyr195His | |
| NM_001142604.1:c.274T>C | NP_001136076.1:p.Tyr92His | |
| XM_005271008.1:c.583T>C | XP_005271065.1:p.Tyr195His | |
| NM_001363695.1:c.583T>C | NP_001350624.1:p.Tyr195His | |
| NM_000310.4:c.583T>C MANE Select | NP_000301.1:p.Tyr195His | |
| NM_001142604.2:c.274T>C | NP_001136076.1:p.Tyr92His | |
| NM_001363695.2:c.583T>C | NP_001350624.1:p.Tyr195His |