Linked Data
ClinVar Variation Id:
4231
dbSNP Id:
rs104894690
ExAC:
19:47259107 C / T
gnomAD v2:
19-47259107-C-T
gnomAD v4:
19-46755850-C-T
PubMed:
PMID:14647208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46755850C>T , CM000681.2:g.46755850C>T | GRCh38 |
| NC_000019.9:g.47259107C>T , CM000681.1:g.47259107C>T | GRCh37 |
| NC_000019.8:g.51950947C>T | NCBI36 |
| NG_008898.2:g.14805C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318584.10:c.400C>T MANE Select | ENSP00000326570.4:p.Arg134Trp | |
| ENST00000318584.9:c.400C>T | ENSP00000326570.4:p.Arg134Trp | |
| ENST00000391909.7:c.400C>T | ENSP00000375776.2:p.Arg134Trp | |
| ENST00000593902.1:c.400C>T | ENSP00000470901.1:p.Arg134Trp | |
| ENST00000594467.5:c.-30C>T | ENSP00000471971.1:n.-30C>T | |
| ENST00000597339.5:n.247-5983C>T | ||
| ENST00000600646.5:n.247+7185C>T | ||
| ENST00000601299.5:c.400C>T | ENSP00000470103.1:p.Arg134Trp | |
| NM_001039885.2:c.400C>T | NP_001034974.1:p.Arg134Trp | |
| NM_024301.4:c.400C>T | NP_077277.1:p.Arg134Trp | |
| XM_005259247.1:c.400C>T | XP_005259304.1:p.Arg134Trp | |
| XM_005259248.1:c.400C>T | XP_005259305.1:p.Arg134Trp | |
| XM_005259249.3:c.400C>T | XP_005259306.1:p.Arg134Trp | |
| XM_005259250.3:c.400C>T | XP_005259307.1:p.Arg134Trp | |
| XM_011527301.1:c.400C>T | XP_011525603.1:p.Arg134Trp | |
| XM_011527302.1:c.400C>T | XP_011525604.1:p.Arg134Trp | |
| XM_011527303.1:c.400C>T | XP_011525605.1:p.Arg134Trp | |
| XM_011527304.1:c.400C>T | XP_011525606.1:p.Arg134Trp | |
| XM_011527305.1:c.400C>T | XP_011525607.1:p.Arg134Trp | |
| XM_011527306.1:c.400C>T | XP_011525608.1:p.Arg134Trp | |
| XM_011527307.1:c.400C>T | XP_011525609.1:p.Arg134Trp | |
| XM_005259247.2:c.400C>T | XP_005259304.1:p.Arg134Trp | |
| XM_005259248.2:c.400C>T | XP_005259305.1:p.Arg134Trp | |
| XM_005259249.4:c.400C>T | XP_005259306.1:p.Arg134Trp | |
| XM_011527306.2:c.400C>T | XP_011525608.1:p.Arg134Trp | |
| XM_017027297.2:c.400C>T | XP_016882786.1:p.Arg134Trp | |
| XM_024451707.1:c.400C>T | XP_024307475.1:p.Arg134Trp | |
| NM_001039885.3:c.400C>T | NP_001034974.1:p.Arg134Trp | |
| NM_024301.5:c.400C>T MANE Select | NP_077277.1:p.Arg134Trp |