Linked Data
dbSNP Id:
rs528775339
ExAC:
20:33519758 A / T
gnomAD v2:
20-33519758-A-T
gnomAD v3:
20-34931955-A-T
gnomAD v4:
20-34931955-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34931955A>T , CM000682.2:g.34931955A>T | GRCh38 |
| NC_000020.10:g.33519758A>T , CM000682.1:g.33519758A>T | GRCh37 |
| NC_000020.9:g.32983419A>T | NCBI36 |
| NG_008848.1:g.28844T>A | |
| NG_008848.2:g.29073T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642498.1:c.1013T>A | ENSP00000493631.1:p.Leu338His | |
| ENST00000642538.1:c.*357T>A | ENSP00000493927.1:n.*357T>A | |
| ENST00000643188.1:c.1013T>A | ENSP00000493903.1:p.Leu338His | |
| ENST00000643443.1:c.*720T>A | ENSP00000495572.1:n.*720T>A | |
| ENST00000643502.1:c.670T>A | ||
| ENST00000643908.1:n.1231T>A | ||
| ENST00000644538.1:n.1290T>A | ||
| ENST00000644793.1:c.1013T>A | ENSP00000495750.1:p.Leu338His | |
| ENST00000645328.1:c.391T>A | ||
| ENST00000645408.1:c.546T>A | ||
| ENST00000645723.1:n.2252T>A | ||
| ENST00000646405.1:c.*431T>A | ENSP00000493744.1:n.*431T>A | |
| ENST00000646512.1:n.1159T>A | ||
| ENST00000646735.1:c.680T>A | ENSP00000493763.1:p.Leu227His | |
| ENST00000651619.1:c.1013T>A MANE Select | ENSP00000498303.1:p.Leu338His | |
| ENST00000216951.6:c.1013T>A | ENSP00000216951.2:p.Leu338His | |
| ENST00000451957.2:c.680T>A | ENSP00000407517.2:p.Leu227His | |
| NM_000178.2:c.1013T>A | NP_000169.1:p.Leu338His | |
| XM_005260406.3:c.1013T>A | XP_005260463.1:p.Leu338His | |
| XM_011528796.1:c.1013T>A | XP_011527098.1:p.Leu338His | |
| NM_000178.4:c.1013T>A MANE Select | NP_000169.1:p.Leu338His | |
| NM_001322494.1:c.1013T>A | NP_001309423.1:p.Leu338His | |
| NM_001322495.1:c.1013T>A | NP_001309424.1:p.Leu338His |