Linked Data
dbSNP Id:
rs200150287
ExAC:
10:96535188 C / T
gnomAD v2:
10-96535188-C-T
gnomAD v3:
10-94775431-C-T
gnomAD v4:
10-94775431-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775431C>T , CM000672.2:g.94775431C>T | GRCh38 |
| NC_000010.10:g.96535188C>T , CM000672.1:g.96535188C>T | GRCh37 |
| NC_000010.9:g.96525178C>T | NCBI36 |
| NG_008384.2:g.17726C>T | |
| NG_008384.3:g.17751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.373C>T MANE Select | ENSP00000360372.3:p.Arg125Cys | |
| ENST00000645461.1:n.1426C>T | ||
| ENST00000371321.7:c.373C>T | ENSP00000360372.3:p.Arg125Cys | |
| ENST00000464755.1:c.1136C>T | ENSP00000483243.1:n.1136C>T | |
| ENST00000480405.2:c.373C>T | ENSP00000483847.1:p.Arg125Cys | |
| NM_000769.2:c.373C>T | NP_000760.1:p.Arg125Cys | |
| NM_000769.4:c.373C>T MANE Select | NP_000760.1:p.Arg125Cys |