Linked Data
dbSNP Id:
rs780385627
ExAC:
15:78894403 G / C
gnomAD v2:
15-78894403-G-C
gnomAD v4:
15-78602061-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602061G>C , CM000677.2:g.78602061G>C | GRCh38 |
| NC_000015.9:g.78894403G>C , CM000677.1:g.78894403G>C | GRCh37 |
| NC_000015.8:g.76681458G>C | NCBI36 |
| NG_016143.1:g.24235C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.581C>G MANE Select | ENSP00000315602.5:p.Ser194Cys | |
| ENST00000326828.5:c.581C>G | ENSP00000315602.5:p.Ser194Cys | |
| ENST00000348639.7:c.581C>G | ENSP00000267951.4:p.Ser194Cys | |
| ENST00000558903.1:n.288C>G | ||
| ENST00000559658.5:c.581C>G | ENSP00000452896.1:p.Ser194Cys | |
| NM_000743.4:c.581C>G | NP_000734.2:p.Ser194Cys | |
| NM_001166694.1:c.581C>G | NP_001160166.1:p.Ser194Cys | |
| NR_046313.1:n.1082C>G | ||
| XM_006720382.1:c.380C>G | XP_006720445.1:p.Ser127Cys | |
| XM_011521173.1:c.500C>G | XP_011519475.1:p.Ser167Cys | |
| XM_006720382.3:c.380C>G | XP_006720445.1:p.Ser127Cys | |
| NM_000743.5:c.581C>G MANE Select | NP_000734.2:p.Ser194Cys | |
| NM_001166694.2:c.581C>G | NP_001160166.1:p.Ser194Cys | |
| NR_046313.2:n.783C>G |