Linked Data
ClinVar Variation Id:
373121
dbSNP Id:
rs780580623
ExAC:
14:50655255 C / T
gnomAD v2:
14-50655255-C-T
gnomAD v3:
14-50188537-C-T
gnomAD v4:
14-50188537-C-T
ERepo:
CA7177479/MONDO:0021060/042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50188537C>T , CM000676.2:g.50188537C>T | GRCh38 |
| NC_000014.8:g.50655255C>T , CM000676.1:g.50655255C>T | GRCh37 |
| NC_000014.7:g.49725005C>T | NCBI36 |
| NG_051073.1:g.48157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.674G>A MANE Select | ENSP00000216373.5:p.Arg225Gln | |
| ENST00000216373.9:c.674G>A | ENSP00000216373.5:p.Arg225Gln | |
| ENST00000543680.5:c.674G>A | ENSP00000445328.1:p.Arg225Gln | |
| ENST00000556469.5:n.482-5931G>A | ||
| NM_006939.2:c.674G>A | NP_008870.2:p.Arg225Gln | |
| XM_005268021.1:c.494G>A | XP_005268078.1:p.Arg165Gln | |
| XM_011537103.1:c.635G>A | XP_011535405.1:p.Arg212Gln | |
| XM_011537104.1:c.674G>A | XP_011535406.1:p.Arg225Gln | |
| XR_943842.1:n.1039+4665C>T | ||
| XR_943843.1:n.1039+4665C>T | ||
| NM_006939.3:c.674G>A | NP_008870.2:p.Arg225Gln | |
| NM_006939.4:c.674G>A MANE Select | NP_008870.2:p.Arg225Gln |