Linked Data
ClinVar Variation Id:
1907329
ClinVar RCV Id:
RCV002589283
dbSNP Id:
rs766274707
ExAC:
4:44680730 C / T
gnomAD v2:
4-44680730-C-T
gnomAD v3:
4-44678713-C-T
gnomAD v4:
4-44678713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44678713C>T , CM000666.2:g.44678713C>T | GRCh38 |
| NC_000004.11:g.44680730C>T , CM000666.1:g.44680730C>T | GRCh37 |
| NC_000004.10:g.44375487C>T | NCBI36 |
| NG_051569.1:g.5319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.91C>T MANE Select | ENSP00000281543.5:p.Arg31Trp | |
| ENST00000281543.5:c.91C>T | ENSP00000281543.5:p.Arg31Trp | |
| ENST00000506793.5:n.159+128C>T | ||
| ENST00000513775.1:c.91C>T | ENSP00000422681.1:p.Arg31Trp | |
| NM_021927.2:c.91C>T | NP_068746.2:p.Arg31Trp | |
| XM_005248122.2:c.-770C>T | XP_005248179.1:n.-770C>T | |
| XM_011513732.1:c.91C>T | XP_011512034.1:p.Arg31Trp | |
| XM_011513733.1:c.15+128C>T | XP_011512035.1:n.15+128C>T | |
| XM_011513734.1:c.91C>T | XP_011512036.1:p.Arg31Trp | |
| NM_001345867.1:c.-878C>T | NP_001332796.1:n.-878C>T | |
| NM_001345868.1:c.91C>T | NP_001332797.1:p.Arg31Trp | |
| NM_001345869.1:c.-770C>T | NP_001332798.1:n.-770C>T | |
| XM_024454178.1:c.15+128C>T | XP_024309946.1:n.15+128C>T | |
| NM_021927.3:c.91C>T MANE Select | NP_068746.2:p.Arg31Trp | |
| NM_001345867.2:c.-878C>T | NP_001332796.1:n.-878C>T | |
| NM_001345868.2:c.91C>T | NP_001332797.1:p.Arg31Trp | |
| NM_001345869.2:c.-770C>T | NP_001332798.1:n.-770C>T |