Linked Data
ClinVar Variation Id:
235750
dbSNP Id:
rs367823977
ExAC:
19:41928258 A / G
gnomAD v2:
19-41928258-A-G
gnomAD v3:
19-41422353-A-G
gnomAD v4:
19-41422353-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422353A>G , CM000681.2:g.41422353A>G | GRCh38 |
| NC_000019.9:g.41928258A>G , CM000681.1:g.41928258A>G | GRCh37 |
| NC_000019.8:g.46620098A>G | NCBI36 |
| NG_013004.1:g.29565A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.836A>G MANE Select | ENSP00000269980.2:p.Tyr279Cys | |
| ENST00000269980.6:c.836A>G | ENSP00000269980.2:p.Tyr279Cys | |
| ENST00000457836.6:c.770A>G | ENSP00000416000.2:p.Tyr257Cys | |
| ENST00000535632.5:n.465A>G | ||
| ENST00000540732.3:c.938A>G | ENSP00000443246.1:p.Tyr313Cys | |
| ENST00000542943.5:c.749A>G | ENSP00000440345.1:p.Tyr250Cys | |
| ENST00000545787.1:n.464A>G | ||
| ENST00000595085.5:c.836A>G | ENSP00000471150.2:p.Tyr279Cys | |
| NM_000709.3:c.836A>G | NP_000700.1:p.Tyr279Cys | |
| NM_001164783.1:c.836A>G | NP_001158255.1:p.Tyr279Cys | |
| NM_000709.4:c.836A>G MANE Select | NP_000700.1:p.Tyr279Cys | |
| NM_001164783.2:c.836A>G | NP_001158255.1:p.Tyr279Cys |