Linked Data
dbSNP Id:
rs375587857
ExAC:
19:11537008 G / A
gnomAD v2:
19-11537008-G-A
gnomAD v3:
19-11426188-G-A
gnomAD v4:
19-11426188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11426188G>A , CM000681.2:g.11426188G>A | GRCh38 |
| NC_000019.9:g.11537008G>A , CM000681.1:g.11537008G>A | GRCh37 |
| NC_000019.8:g.11398008G>A | NCBI36 |
| NG_041777.1:g.14595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.919C>T MANE Select | ENSP00000348757.3:p.Arg307Cys | |
| ENST00000356392.8:c.919C>T | ENSP00000348757.3:p.Arg307Cys | |
| ENST00000586836.5:c.346C>T | ENSP00000467429.1:p.Arg116Cys | |
| ENST00000591179.5:c.739C>T | ENSP00000466800.1:p.Arg247Cys | |
| ENST00000591345.5:c.*838C>T | ENSP00000467313.1:n.*838C>T | |
| NM_001302453.1:c.757C>T | NP_001289382.1:p.Arg253Cys | |
| NM_001302454.1:c.739C>T | NP_001289383.1:p.Arg247Cys | |
| NM_145045.4:c.919C>T | NP_659482.3:p.Arg307Cys | |
| XM_017026241.1:c.904+15C>T | XP_016881730.1:n.904+15C>T | |
| NM_145045.5:c.919C>T MANE Select | NP_659482.3:p.Arg307Cys | |
| NM_001302454.2:c.739C>T | NP_001289383.1:p.Arg247Cys |