Linked Data
dbSNP Id:
rs35023033
ExAC:
7:87174198 G / A
gnomAD v2:
7-87174198-G-A
gnomAD v3:
7-87544882-G-A
gnomAD v4:
7-87544882-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87544882G>A , CM000669.2:g.87544882G>A | GRCh38 |
| NC_000007.13:g.87174198G>A , CM000669.1:g.87174198G>A | GRCh37 |
| NC_000007.12:g.87012134G>A | NCBI36 |
| NG_011513.1:g.173367C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265724.8:c.2005C>T | ENSP00000265724.3:p.Arg669Cys | |
| ENST00000622132.5:c.2005C>T MANE Select | ENSP00000478255.1:p.Arg669Cys | |
| ENST00000265724.7:c.2005C>T | ENSP00000265724.3:p.Arg669Cys | |
| ENST00000543898.5:c.1813C>T | ENSP00000444095.1:p.Arg605Cys | |
| ENST00000622132.4:c.2005C>T | ENSP00000478255.1:p.Arg669Cys | |
| NM_000927.4:c.2005C>T | NP_000918.2:p.Arg669Cys | |
| NM_001348944.1:c.2005C>T | NP_001335873.1:p.Arg669Cys | |
| NM_001348945.1:c.2215C>T | NP_001335874.1:p.Arg739Cys | |
| NM_001348946.1:c.2005C>T | NP_001335875.1:p.Arg669Cys | |
| NM_001348946.2:c.2005C>T MANE Select | NP_001335875.1:p.Arg669Cys | |
| NM_000927.5:c.2005C>T | NP_000918.2:p.Arg669Cys | |
| NM_001348944.2:c.2005C>T | NP_001335873.1:p.Arg669Cys | |
| NM_001348945.2:c.2215C>T | NP_001335874.1:p.Arg739Cys |