Linked Data
dbSNP Id:
rs746075573
ExAC:
14:95053705 G / A
gnomAD v2:
14-95053705-G-A
gnomAD v4:
14-94587368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94587368G>A , CM000676.2:g.94587368G>A | GRCh38 |
| NC_000014.8:g.95053705G>A , CM000676.1:g.95053705G>A | GRCh37 |
| NC_000014.7:g.94123458G>A | NCBI36 |
| NG_032908.2:g.30927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329597.12:c.6G>A MANE Select | ENSP00000333203.7:p.Gln2= | |
| ENST00000329597.11:c.6G>A | ENSP00000333203.7:p.Gln2= | |
| ENST00000553511.1:c.6G>A | ENSP00000451215.1:p.Gln2= | |
| ENST00000553780.5:c.6G>A | ENSP00000450837.1:p.Gln2= | |
| ENST00000554220.5:c.6G>A | ENSP00000450484.1:p.Gln2= | |
| ENST00000554276.1:c.6G>A | ENSP00000451610.1:p.Gln2= | |
| ENST00000554633.5:c.6G>A | ENSP00000451697.1:p.Gln2= | |
| ENST00000554760.5:c.6G>A | ENSP00000452469.1:p.Gln2= | |
| ENST00000554866.5:c.6G>A | ENSP00000451126.1:p.Gln2= | |
| ENST00000555681.1:c.6G>A | ENSP00000451650.1:p.Gln2= | |
| ENST00000556064.1:c.6G>A | ENSP00000451487.1:p.Gln2= | |
| ENST00000556730.1:n.123G>A | ||
| ENST00000556775.5:c.6G>A | ENSP00000450745.1:p.Gln2= | |
| ENST00000557598.1:c.6G>A | ENSP00000450485.1:p.Gln2= | |
| NM_000624.5:c.6G>A | NP_000615.3:p.Gln2= | |
| NM_000624.6:c.6G>A MANE Select | NP_000615.3:p.Gln2= |