Linked Data
ClinVar Variation Id:
349783
dbSNP Id:
rs376458338
ExAC:
4:79421050 G / A
gnomAD v2:
4-79421050-G-A
gnomAD v3:
4-78499896-G-A
gnomAD v4:
4-78499896-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78499896G>A , CM000666.2:g.78499896G>A | GRCh38 |
| NC_000004.11:g.79421050G>A , CM000666.1:g.79421050G>A | GRCh37 |
| NC_000004.10:g.79640074G>A | NCBI36 |
| NG_015812.1:g.447327G>A | |
| NG_015812.2:g.447327G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.9291G>A | ENSP00000508201.1:p.Lys3097= | |
| ENST00000512123.4:c.9291G>A MANE Select | ENSP00000422834.2:p.Lys3097= | |
| ENST00000512123.3:c.9291G>A | ENSP00000422834.2:p.Lys3097= | |
| NM_025074.6:c.9291G>A | NP_079350.5:p.Lys3097= | |
| XM_006714314.1:c.9285G>A | XP_006714377.1:p.Lys3095= | |
| XM_006714316.1:c.9063G>A | XP_006714379.1:p.Lys3021= | |
| XM_011532270.1:c.6990G>A | XP_011530572.1:p.Lys2330= | |
| XM_011532271.1:c.4179G>A | XP_011530573.1:p.Lys1393= | |
| XM_006714316.3:c.9063G>A | XP_006714379.1:p.Lys3021= | |
| NM_025074.7:c.9291G>A MANE Select | NP_079350.5:p.Lys3097= |