Linked Data
dbSNP Id:
rs1719098650
gnomAD v4:
4-73419636-G-A
MyVariant Identifiers:
chr4:g.74285353G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419636G>A , CM000666.2:g.73419636G>A | GRCh38 |
| NC_000004.11:g.74285353G>A , CM000666.1:g.74285353G>A | GRCh37 |
| NC_000004.10:g.74504217G>A | NCBI36 |
| NG_009291.1:g.20382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1782G>A MANE Select | ENSP00000295897.4:p.Glu594= | |
| ENST00000295897.8:c.1782G>A | ENSP00000295897.4:p.Glu594= | |
| ENST00000401494.7:c.1437G>A | ENSP00000384695.3:p.Glu479= | |
| ENST00000415165.6:c.1206G>A | ENSP00000401820.2:p.Glu402= | |
| ENST00000476441.6:c.*1061G>A | ENSP00000423727.1:n.*1061G>A | |
| ENST00000495173.1:n.90G>A | ||
| ENST00000503124.5:c.1332G>A | ENSP00000421027.1:p.Glu444= | |
| ENST00000505649.5:n.1329G>A | ||
| ENST00000508932.5:n.175+181G>A | ||
| ENST00000509063.5:c.1782G>A | ENSP00000422784.1:p.Glu594= | |
| ENST00000511370.1:c.1315G>A | ||
| ENST00000621085.4:c.1143G>A | ENSP00000483421.1:p.Glu381= | |
| ENST00000621628.4:c.1143G>A | ENSP00000480485.1:p.Glu381= | |
| NM_000477.5:c.1782G>A | NP_000468.1:p.Glu594= | |
| NM_000477.6:c.1782G>A | NP_000468.1:p.Glu594= | |
| NM_000477.7:c.1782G>A MANE Select | NP_000468.1:p.Glu594= |