Linked Data
dbSNP Id:
rs1193273971
gnomAD v2:
20-33523390-A-G
gnomAD v3:
20-34935587-A-G
gnomAD v4:
20-34935587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34935587A>G , CM000682.2:g.34935587A>G | GRCh38 |
| NC_000020.10:g.33523390A>G , CM000682.1:g.33523390A>G | GRCh37 |
| NC_000020.9:g.32987051A>G | NCBI36 |
| NG_008848.1:g.25212T>C | |
| NG_008848.2:g.25441T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.*474+1176T>C | ENSP00000493524.1:n.*474+1176T>C | |
| ENST00000642498.1:c.823T>C | ENSP00000493631.1:p.Tyr275His | |
| ENST00000642538.1:c.*167T>C | ENSP00000493927.1:n.*167T>C | |
| ENST00000643188.1:c.823T>C | ENSP00000493903.1:p.Tyr275His | |
| ENST00000643443.1:c.*530T>C | ENSP00000495572.1:n.*530T>C | |
| ENST00000643502.1:c.480T>C | ||
| ENST00000643908.1:n.1052+1356T>C | ||
| ENST00000644538.1:n.1100T>C | ||
| ENST00000644793.1:c.823T>C | ENSP00000495750.1:p.Tyr275His | |
| ENST00000645328.1:c.201T>C | ||
| ENST00000645408.1:c.367+1176T>C | ||
| ENST00000645723.1:n.2062T>C | ||
| ENST00000646405.1:c.*252+1176T>C | ENSP00000493744.1:n.*252+1176T>C | |
| ENST00000646497.1:n.768T>C | ||
| ENST00000646502.1:n.1305T>C | ||
| ENST00000646512.1:n.980+1176T>C | ||
| ENST00000646735.1:c.490T>C | ENSP00000493763.1:p.Tyr164His | |
| ENST00000651619.1:c.823T>C MANE Select | ENSP00000498303.1:p.Tyr275His | |
| ENST00000216951.6:c.823T>C | ENSP00000216951.2:p.Tyr275His | |
| ENST00000451957.2:c.490T>C | ENSP00000407517.2:p.Tyr164His | |
| NM_000178.2:c.823T>C | NP_000169.1:p.Tyr275His | |
| XM_005260406.3:c.823T>C | XP_005260463.1:p.Tyr275His | |
| XM_011528796.1:c.823T>C | XP_011527098.1:p.Tyr275His | |
| NM_000178.4:c.823T>C MANE Select | NP_000169.1:p.Tyr275His | |
| NM_001322494.1:c.823T>C | NP_001309423.1:p.Tyr275His | |
| NM_001322495.1:c.823T>C | NP_001309424.1:p.Tyr275His |