Linked Data
ClinVar Variation Id:
475749
dbSNP Id:
rs772746106
ExAC:
14:50605331 C / T
gnomAD v2:
14-50605331-C-T
gnomAD v3:
14-50138613-C-T
gnomAD v4:
14-50138613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50138613C>T , CM000676.2:g.50138613C>T | GRCh38 |
| NC_000014.8:g.50605331C>T , CM000676.1:g.50605331C>T | GRCh37 |
| NC_000014.7:g.49675081C>T | NCBI36 |
| NG_051073.1:g.98081G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2957G>A MANE Select | ENSP00000216373.5:p.Arg986Lys | |
| ENST00000216373.9:c.2957G>A | ENSP00000216373.5:p.Arg986Lys | |
| ENST00000543680.5:c.2858G>A | ENSP00000445328.1:p.Arg953Lys | |
| NM_006939.2:c.2957G>A | NP_008870.2:p.Arg986Lys | |
| XM_005268021.1:c.2777G>A | XP_005268078.1:p.Arg926Lys | |
| XM_011537103.1:c.2918G>A | XP_011535405.1:p.Arg973Lys | |
| XM_011537104.1:c.2785+1329G>A | XP_011535406.1:n.2785+1329G>A | |
| NM_006939.3:c.2957G>A | NP_008870.2:p.Arg986Lys | |
| NM_006939.4:c.2957G>A MANE Select | NP_008870.2:p.Arg986Lys |