Linked Data
dbSNP Id:
rs531491182
ExAC:
14:50088474 T / A
gnomAD v2:
14-50088474-T-A
gnomAD v3:
14-49621756-T-A
gnomAD v4:
14-49621756-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621756T>A , CM000676.2:g.49621756T>A | GRCh38 |
| NC_000014.8:g.50088474T>A , CM000676.1:g.50088474T>A | GRCh37 |
| NC_000014.7:g.49158224T>A | NCBI36 |
| NG_008920.1:g.5986T>A | |
| NG_033054.1:g.3876A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.488T>A MANE Select | ENSP00000307423.2:p.Leu163Gln | |
| ENST00000305386.3:c.488T>A | ENSP00000307423.2:p.Leu163Gln | |
| NM_002408.3:c.488T>A | NP_002399.1:p.Leu163Gln | |
| NM_002408.4:c.488T>A MANE Select | NP_002399.1:p.Leu163Gln |