Linked Data
ClinVar Variation Id:
56214
dbSNP Id:
rs386833665
gnomAD v2:
1-40542573-A-G
gnomAD v4:
1-40076901-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40076901A>G , CM000663.2:g.40076901A>G | GRCh38 |
| NC_000001.10:g.40542573A>G , CM000663.1:g.40542573A>G | GRCh37 |
| NC_000001.9:g.40315160A>G | NCBI36 |
| NG_009192.1:g.25570T>C , LRG_690:g.25570T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.736T>C | ENSP00000394863.4:p.Tyr246His | |
| ENST00000439754.6:c.726+1659T>C | ENSP00000403207.2:n.726+1659T>C | |
| ENST00000449045.7:c.430T>C | ENSP00000392293.2:p.Tyr144His | |
| ENST00000527311.7:c.508T>C | ENSP00000436695.3:p.Tyr170His | |
| ENST00000530076.6:c.82T>C | ENSP00000434007.1:p.Tyr28His | |
| ENST00000530704.6:c.*362T>C | ENSP00000431655.1:n.*362T>C | |
| ENST00000641083.1:c.717T>C | ||
| ENST00000641236.1:n.976T>C | ||
| ENST00000641319.1:c.739T>C | ENSP00000493128.1:p.Tyr247His | |
| ENST00000641381.1:c.161T>C | ||
| ENST00000641471.1:c.826T>C | ENSP00000493146.1:p.Tyr276His | |
| ENST00000641691.1:c.*591T>C | ENSP00000492910.1:n.*591T>C | |
| ENST00000641924.1:c.*168T>C | ENSP00000493063.1:n.*168T>C | |
| ENST00000642050.2:c.739T>C MANE Select | ENSP00000493153.1:p.Tyr247His | |
| ENST00000372775.2:n.136T>C | ||
| ENST00000433473.7:c.739T>C | ENSP00000394863.3:p.Tyr247His | |
| ENST00000439754.5:c.411+1659T>C | ENSP00000403207.1:n.411+1659T>C | |
| ENST00000449045.6:c.430T>C | ENSP00000392293.2:p.Tyr144His | |
| ENST00000527311.6:c.514T>C | ENSP00000436695.2:p.Tyr172His | |
| ENST00000529905.5:c.739T>C | ENSP00000432053.1:p.Tyr247His | |
| ENST00000530076.5:c.82T>C | ENSP00000434007.1:p.Tyr28His | |
| ENST00000530704.5:c.*362T>C | ENSP00000431655.1:n.*362T>C | |
| NM_000310.3:c.739T>C , LRG_690t1:c.739T>C | NP_000301.1:p.Tyr247His | |
| NM_001142604.1:c.430T>C | NP_001136076.1:p.Tyr144His | |
| XM_005271008.1:c.726+1659T>C | XP_005271065.1:n.726+1659T>C | |
| NM_001363695.1:c.726+1659T>C | NP_001350624.1:n.726+1659T>C | |
| NM_000310.4:c.739T>C MANE Select | NP_000301.1:p.Tyr247His | |
| NM_001142604.2:c.430T>C | NP_001136076.1:p.Tyr144His | |
| NM_001363695.2:c.726+1659T>C | NP_001350624.1:n.726+1659T>C |