Linked Data
dbSNP Id:
rs756560466
ExAC:
5:177031502 C / T
gnomAD v2:
5-177031502-C-T
gnomAD v3:
5-177604501-C-T
gnomAD v4:
5-177604501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604501C>T , CM000667.2:g.177604501C>T | GRCh38 |
| NC_000005.9:g.177031502C>T , CM000667.1:g.177031502C>T | GRCh37 |
| NC_000005.8:g.176964108C>T | NCBI36 |
| NG_015977.1:g.9384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.373C>T MANE Select | ENSP00000029410.5:p.Arg125Trp | |
| ENST00000029410.9:c.373C>T | ENSP00000029410.5:p.Arg125Trp | |
| ENST00000502420.1:n.352C>T | ||
| ENST00000505433.5:c.373C>T | ENSP00000425591.1:p.Arg125Trp | |
| ENST00000505468.1:c.31C>T | ENSP00000420886.1:p.Arg11Trp | |
| ENST00000507061.1:c.190C>T | ENSP00000423868.1:p.Arg64Trp | |
| ENST00000510761.1:c.31C>T | ENSP00000423438.1:p.Arg11Trp | |
| NM_007255.2:c.373C>T | NP_009186.1:p.Arg125Trp | |
| XM_005265805.2:c.31C>T | XP_005265862.1:p.Arg11Trp | |
| XM_006714816.2:c.-127C>T | XP_006714879.1:n.-127C>T | |
| XM_011534421.1:c.31C>T | XP_011532723.1:p.Arg11Trp | |
| XM_006714816.4:c.-127C>T | XP_006714879.1:n.-127C>T | |
| XM_017008999.2:c.31C>T | XP_016864488.1:p.Arg11Trp | |
| NM_007255.3:c.373C>T MANE Select | NP_009186.1:p.Arg125Trp |