Linked Data
ClinVar Variation Id:
3134542
ClinVar RCV Id:
RCV004431895
dbSNP Id:
rs549252141
ExAC:
14:54418603 C / T
gnomAD v2:
14-54418603-C-T
gnomAD v3:
14-53951885-C-T
gnomAD v4:
14-53951885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53951885C>T , CM000676.2:g.53951885C>T | GRCh38 |
| NC_000014.8:g.54418603C>T , CM000676.1:g.54418603C>T | GRCh37 |
| NC_000014.7:g.53488353C>T | NCBI36 |
| NG_009215.1:g.9952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245451.9:c.338G>A MANE Select | ENSP00000245451.4:p.Arg113Gln | |
| ENST00000245451.8:c.338G>A | ENSP00000245451.4:p.Arg113Gln | |
| ENST00000417573.5:c.338G>A | ENSP00000394165.1:p.Arg113Gln | |
| ENST00000558961.1:c.263G>A | ENSP00000453691.1:p.Arg88Gln | |
| ENST00000558984.1:c.338G>A | ENSP00000454134.1:p.Arg113Gln | |
| ENST00000559087.5:c.338G>A | ENSP00000453485.1:p.Arg113Gln | |
| ENST00000559501.1:c.149G>A | ENSP00000453365.1:p.Arg50Gln | |
| NM_001202.3:c.338G>A | NP_001193.2:p.Arg113Gln | |
| NM_130850.2:c.338G>A | NP_570911.2:p.Arg113Gln | |
| NM_130851.2:c.338G>A | NP_570912.2:p.Arg113Gln | |
| XM_005268015.3:c.338G>A | XP_005268072.1:p.Arg113Gln | |
| NM_001202.5:c.338G>A | NP_001193.2:p.Arg113Gln | |
| NM_001347912.1:c.479G>A | NP_001334841.1:p.Arg160Gln | |
| NM_001347913.1:c.149G>A | NP_001334842.1:p.Arg50Gln | |
| NM_001347914.1:c.338G>A | NP_001334843.1:p.Arg113Gln | |
| NM_001347915.1:c.149G>A | NP_001334844.1:p.Arg50Gln | |
| NM_001347916.1:c.338G>A | NP_001334845.1:p.Arg113Gln | |
| NM_001347917.1:c.149G>A | NP_001334846.1:p.Arg50Gln | |
| NM_130850.4:c.338G>A | NP_570911.2:p.Arg113Gln | |
| NM_130851.3:c.338G>A | NP_570912.2:p.Arg113Gln | |
| NM_001202.6:c.338G>A MANE Select | NP_001193.2:p.Arg113Gln | |
| NM_130850.5:c.338G>A | NP_570911.2:p.Arg113Gln | |
| NM_001347913.2:c.149G>A | NP_001334842.1:p.Arg50Gln | |
| NM_001347914.2:c.338G>A | NP_001334843.1:p.Arg113Gln | |
| NM_001347915.2:c.149G>A | NP_001334844.1:p.Arg50Gln | |
| NM_130851.4:c.338G>A | NP_570912.2:p.Arg113Gln |