Linked Data
dbSNP Id:
rs778377158
ExAC:
13:48619848 G / C
gnomAD v2:
13-48619848-G-C
gnomAD v4:
13-48045712-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045712G>C , CM000675.2:g.48045712G>C | GRCh38 |
| NC_000013.10:g.48619848G>C , CM000675.1:g.48619848G>C | GRCh37 |
| NC_000013.9:g.47517849G>C | NCBI36 |
| NG_047021.1:g.13146G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.408G>C MANE Select | ENSP00000258662.1:p.Trp136Cys | |
| ENST00000258662.2:c.408G>C | ENSP00000258662.1:p.Trp136Cys | |
| NM_018283.2:c.408G>C | NP_060753.1:p.Trp136Cys | |
| NM_018283.3:c.408G>C | NP_060753.1:p.Trp136Cys | |
| NR_136687.1:n.588G>C | ||
| NR_136688.1:n.588G>C | ||
| NM_018283.4:c.408G>C MANE Select | NP_060753.1:p.Trp136Cys | |
| NR_136687.2:n.429G>C | ||
| NR_136688.2:n.429G>C |