Linked Data
dbSNP Id:
rs752233998
ExAC:
11:67353962 C / T
gnomAD v2:
11-67353962-C-T
gnomAD v3:
11-67586491-C-T
gnomAD v4:
11-67586491-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586491C>T , CM000673.2:g.67586491C>T | GRCh38 |
| NC_000011.9:g.67353962C>T , CM000673.1:g.67353962C>T | GRCh37 |
| NC_000011.8:g.67110538C>T | NCBI36 |
| NG_012075.1:g.7897C>T , LRG_723:g.7897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.439C>T | ENSP00000381604.1:p.Arg147Cys | |
| ENST00000398606.10:c.547C>T MANE Select | ENSP00000381607.3:p.Arg183Cys | |
| ENST00000646888.1:c.*263C>T | ENSP00000494477.1:n.*263C>T | |
| ENST00000398603.5:c.439C>T | ENSP00000381604.1:p.Arg147Cys | |
| ENST00000398606.7:c.547C>T | ENSP00000381607.3:p.Arg183Cys | |
| ENST00000467591.1:n.658C>T | ||
| ENST00000494593.1:n.1519C>T | ||
| ENST00000498765.5:c.610C>T | ||
| NM_000852.3:c.547C>T , LRG_723t1:c.547C>T | NP_000843.1:p.Arg183Cys | |
| NM_000852.4:c.547C>T MANE Select | NP_000843.1:p.Arg183Cys |