Linked Data
ClinVar Variation Id:
1285073
dbSNP Id:
rs534978828
ExAC:
1:12004675 C / T
gnomAD v2:
1-12004675-C-T
gnomAD v3:
1-11944618-C-T
gnomAD v4:
1-11944618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11944618C>T , CM000663.2:g.11944618C>T | GRCh38 |
| NC_000001.10:g.12004675C>T , CM000663.1:g.12004675C>T | GRCh37 |
| NC_000001.9:g.11927262C>T | NCBI36 |
| NG_008159.1:g.14930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.77-3358C>T MANE Select | ENSP00000196061.4:n.77-3358C>T | |
| ENST00000196061.4:c.77-3358C>T | ENSP00000196061.4:n.77-3358C>T | |
| ENST00000358133.5:n.123-3358C>T | ||
| ENST00000429000.6:c.77-3358C>T | ENSP00000405372.1:n.77-3358C>T | |
| ENST00000449038.5:c.173C>T | ENSP00000414443.1:p.Ser58Phe | |
| ENST00000485046.5:n.120-3358C>T | ||
| NM_000302.3:c.77-3358C>T | NP_000293.2:n.77-3358C>T | |
| NM_001316320.1:c.173C>T | NP_001303249.1:p.Ser58Phe | |
| XM_011541594.1:c.113C>T | XP_011539896.1:p.Ser38Phe | |
| XM_024447707.1:c.-591+1840C>T | XP_024303475.1:n.-591+1840C>T | |
| NM_000302.4:c.77-3358C>T MANE Select | NP_000293.2:n.77-3358C>T | |
| NM_001316320.2:c.173C>T | NP_001303249.1:p.Ser58Phe |