Linked Data
ClinVar Variation Id:
349618
dbSNP Id:
rs142714816
ExAC:
4:74274363 A / G
gnomAD v2:
4-74274363-A-G
gnomAD v3:
4-73408646-A-G
gnomAD v4:
4-73408646-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73408646A>G , CM000666.2:g.73408646A>G | GRCh38 |
| NC_000004.11:g.74274363A>G , CM000666.1:g.74274363A>G | GRCh37 |
| NC_000004.10:g.74493227A>G | NCBI36 |
| NG_009291.1:g.9392A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.323A>G MANE Select | ENSP00000295897.4:p.Tyr108Cys | |
| ENST00000295897.8:c.323A>G | ENSP00000295897.4:p.Tyr108Cys | |
| ENST00000401494.7:c.138-709A>G | ENSP00000384695.3:n.138-709A>G | |
| ENST00000415165.6:c.138-3350A>G | ENSP00000401820.2:n.138-3350A>G | |
| ENST00000441319.5:c.329A>G | ENSP00000392541.1:p.Tyr110Cys | |
| ENST00000476441.6:c.80-709A>G | ENSP00000423727.1:n.80-709A>G | |
| ENST00000503124.5:c.33-709A>G | ENSP00000421027.1:n.33-709A>G | |
| ENST00000505649.5:n.9A>G | ||
| ENST00000509063.5:c.323A>G | ENSP00000422784.1:p.Tyr108Cys | |
| ENST00000510166.5:n.359A>G | ||
| ENST00000514786.1:n.292A>G | ||
| ENST00000515133.5:n.364A>G | ||
| ENST00000621085.4:c.323A>G | ENSP00000483421.1:p.Tyr108Cys | |
| ENST00000621628.4:c.323A>G | ENSP00000480485.1:p.Tyr108Cys | |
| NM_000477.5:c.323A>G | NP_000468.1:p.Tyr108Cys | |
| NM_000477.6:c.323A>G | NP_000468.1:p.Tyr108Cys | |
| NM_000477.7:c.323A>G MANE Select | NP_000468.1:p.Tyr108Cys |