Linked Data
dbSNP Id:
rs896284675
gnomAD v2:
13-47469872-C-A
gnomAD v3:
13-46895737-C-A
gnomAD v4:
13-46895737-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46895737C>A , CM000675.2:g.46895737C>A | GRCh38 |
| NC_000013.10:g.47469872C>A , CM000675.1:g.47469872C>A | GRCh37 |
| NC_000013.9:g.46367873C>A | NCBI36 |
| NG_013011.1:g.6298G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.170G>T MANE Select | ENSP00000437737.1:p.Cys57Phe | |
| ENST00000543956.5:c.-78+937G>T | ENSP00000441861.2:n.-78+937G>T | |
| ENST00000378688.8:c.170G>T | ENSP00000367959.3:p.Cys57Phe | |
| ENST00000542664.3:c.170G>T | ENSP00000437737.1:p.Cys57Phe | |
| ENST00000543956.4:c.160+937G>T | ENSP00000441861.1:n.160+937G>T | |
| ENST00000612998.1:c.77G>T | ENSP00000482708.1:p.Cys26Phe | |
| NM_000621.4:c.170G>T | NP_000612.1:p.Cys57Phe | |
| NM_001165947.2:c.160+937G>T | NP_001159419.1:n.160+937G>T | |
| NM_000621.5:c.170G>T MANE Select | NP_000612.1:p.Cys57Phe | |
| NM_001165947.5:c.-78+937G>T | NP_001159419.2:n.-78+937G>T | |
| NM_001378924.1:c.170G>T | NP_001365853.1:p.Cys57Phe |