Linked Data
dbSNP Id:
rs368207734
ExAC:
15:78894176 C / A
gnomAD v2:
15-78894176-C-A
gnomAD v4:
15-78601834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78601834C>A , CM000677.2:g.78601834C>A | GRCh38 |
| NC_000015.9:g.78894176C>A , CM000677.1:g.78894176C>A | GRCh37 |
| NC_000015.8:g.76681231C>A | NCBI36 |
| NG_016143.1:g.24462G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.808G>T MANE Select | ENSP00000315602.5:p.Gly270Cys | |
| ENST00000326828.5:c.808G>T | ENSP00000315602.5:p.Gly270Cys | |
| ENST00000348639.7:c.808G>T | ENSP00000267951.4:p.Gly270Cys | |
| ENST00000558903.1:n.515G>T | ||
| ENST00000559658.5:c.808G>T | ENSP00000452896.1:p.Gly270Cys | |
| NM_000743.4:c.808G>T | NP_000734.2:p.Gly270Cys | |
| NM_001166694.1:c.808G>T | NP_001160166.1:p.Gly270Cys | |
| NR_046313.1:n.1309G>T | ||
| XM_006720382.1:c.607G>T | XP_006720445.1:p.Gly203Cys | |
| XM_011521173.1:c.727G>T | XP_011519475.1:p.Gly243Cys | |
| XM_006720382.3:c.607G>T | XP_006720445.1:p.Gly203Cys | |
| NM_000743.5:c.808G>T MANE Select | NP_000734.2:p.Gly270Cys | |
| NM_001166694.2:c.808G>T | NP_001160166.1:p.Gly270Cys | |
| NR_046313.2:n.1010G>T |