Linked Data
ClinVar Variation Id:
2572129
ClinVar RCV Id:
RCV003313867
dbSNP Id:
rs755110383
ExAC:
13:113803400 C / T
gnomAD v2:
13-113803400-C-T
gnomAD v3:
13-113149086-C-T
gnomAD v4:
13-113149086-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113149086C>T , CM000675.2:g.113149086C>T | GRCh38 |
| NC_000013.10:g.113803400C>T , CM000675.1:g.113803400C>T | GRCh37 |
| NC_000013.9:g.112851401C>T | NCBI36 |
| NG_009258.1:g.31288C>T , LRG_548:g.31288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.1036C>T MANE Select | ENSP00000364709.3:p.Arg346Cys | |
| ENST00000375551.7:c.*27C>T | ENSP00000364701.3:n.*27C>T | |
| ENST00000375559.7:c.1036C>T | ENSP00000364709.3:p.Arg346Cys | |
| ENST00000409306.5:c.*27C>T | ENSP00000387092.1:n.*27C>T | |
| NM_000504.3:c.1036C>T , LRG_548t1:c.1036C>T | NP_000495.1:p.Arg346Cys | |
| NM_001312674.1:c.904C>T | NP_001299603.1:p.Arg302Cys | |
| NM_001312675.1:c.*27C>T | NP_001299604.1:n.*27C>T | |
| NM_000504.4:c.1036C>T MANE Select | NP_000495.1:p.Arg346Cys | |
| NM_001312674.2:c.904C>T | NP_001299603.1:p.Arg302Cys | |
| NM_001312675.2:c.*27C>T | NP_001299604.1:n.*27C>T |