Linked Data
ClinVar Variation Id:
349626
ClinVar RCV Id:
RCV000278162
dbSNP Id:
rs537985931
ExAC:
4:74280766 A / G
gnomAD v2:
4-74280766-A-G
gnomAD v3:
4-73415049-A-G
gnomAD v4:
4-73415049-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415049A>G , CM000666.2:g.73415049A>G | GRCh38 |
| NC_000004.11:g.74280766A>G , CM000666.1:g.74280766A>G | GRCh37 |
| NC_000004.10:g.74499630A>G | NCBI36 |
| NG_009291.1:g.15795A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1073A>G MANE Select | ENSP00000295897.4:p.Tyr358Cys | |
| ENST00000295897.8:c.1073A>G | ENSP00000295897.4:p.Tyr358Cys | |
| ENST00000401494.7:c.728A>G | ENSP00000384695.3:p.Tyr243Cys | |
| ENST00000415165.6:c.497A>G | ENSP00000401820.2:p.Tyr166Cys | |
| ENST00000476441.6:c.*352A>G | ENSP00000423727.1:n.*352A>G | |
| ENST00000484992.1:n.393A>G | ||
| ENST00000503124.5:c.623A>G | ENSP00000421027.1:p.Tyr208Cys | |
| ENST00000504043.1:n.76A>G | ||
| ENST00000505649.5:n.759A>G | ||
| ENST00000509063.5:c.1073A>G | ENSP00000422784.1:p.Tyr358Cys | |
| ENST00000511370.1:c.606A>G | ||
| ENST00000621085.4:c.491-57A>G | ENSP00000483421.1:n.491-57A>G | |
| ENST00000621628.4:c.487-53A>G | ENSP00000480485.1:n.487-53A>G | |
| NM_000477.5:c.1073A>G | NP_000468.1:p.Tyr358Cys | |
| NM_000477.6:c.1073A>G | NP_000468.1:p.Tyr358Cys | |
| NM_000477.7:c.1073A>G MANE Select | NP_000468.1:p.Tyr358Cys |