Linked Data
ClinVar Variation Id:
444885
ClinVar RCV Id:
RCV000512903
dbSNP Id:
rs1233885358
gnomAD v2:
2-73957152-T-C
gnomAD v3:
2-73730025-T-C
gnomAD v4:
2-73730025-T-C
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73730025T>C , CM000664.2:g.73730025T>C | GRCh38 |
| NC_000002.11:g.73957152T>C , CM000664.1:g.73957152T>C | GRCh37 |
| NC_000002.10:g.73810660T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272424.11:c.446A>G MANE Select | ENSP00000272424.5:p.Tyr149Cys | |
| ENST00000272424.9:c.446A>G | ENSP00000272424.5:p.Tyr149Cys | |
| ENST00000318190.7:c.563A>G | ENSP00000325398.7:p.Tyr188Cys | |
| ENST00000409716.6:c.563A>G | ENSP00000386936.2:p.Tyr188Cys | |
| ENST00000463231.5:n.438+535A>G | ||
| ENST00000484969.5:n.520+535A>G | ||
| ENST00000485758.1:n.595A>G | ||
| ENST00000489476.5:n.334+535A>G | ||
| NM_016058.2:c.446A>G | NP_057142.1:p.Tyr149Cys | |
| XM_005264343.2:c.563A>G | XP_005264400.1:p.Tyr188Cys | |
| XM_005264345.3:c.446A>G | XP_005264402.1:p.Tyr149Cys | |
| XM_006712026.2:c.563A>G | XP_006712089.1:p.Tyr188Cys | |
| XM_006712027.2:c.563A>G | XP_006712090.1:p.Tyr188Cys | |
| XM_011532877.1:c.563A>G | XP_011531179.1:p.Tyr188Cys | |
| XM_011532878.1:c.563A>G | XP_011531180.1:p.Tyr188Cys | |
| XM_011532879.1:c.347A>G | XP_011531181.1:p.Tyr116Cys | |
| XM_011532880.1:c.347A>G | XP_011531182.1:p.Tyr116Cys | |
| NM_001330386.1:c.563A>G | NP_001317315.1:p.Tyr188Cys | |
| NM_001330387.1:c.563A>G | NP_001317316.1:p.Tyr188Cys | |
| NM_001330388.1:c.446A>G | NP_001317317.1:p.Tyr149Cys | |
| NM_001330389.1:c.446A>G | NP_001317318.1:p.Tyr149Cys | |
| NM_001330390.1:c.392A>G | NP_001317319.1:p.Tyr131Cys | |
| NM_001330391.1:c.347A>G | NP_001317320.1:p.Tyr116Cys | |
| NM_001330392.1:c.347A>G | NP_001317321.1:p.Tyr116Cys | |
| NM_016058.3:c.446A>G | NP_057142.1:p.Tyr149Cys | |
| NM_016058.5:c.446A>G MANE Select | NP_057142.1:p.Tyr149Cys | |
| NM_001330386.2:c.563A>G | NP_001317315.1:p.Tyr188Cys | |
| NM_001330387.2:c.563A>G | NP_001317316.1:p.Tyr188Cys | |
| NM_001330388.2:c.446A>G | NP_001317317.1:p.Tyr149Cys | |
| NM_001330389.2:c.446A>G | NP_001317318.1:p.Tyr149Cys | |
| NM_001330390.2:c.392A>G | NP_001317319.1:p.Tyr131Cys | |
| NM_001330391.2:c.347A>G | NP_001317320.1:p.Tyr116Cys | |
| NM_001330392.2:c.347A>G | NP_001317321.1:p.Tyr116Cys |