Linked Data
ClinVar Variation Id:
225398
dbSNP Id:
rs138120505
ExAC:
11:128709634 G / A
gnomAD v2:
11-128709634-G-A
gnomAD v3:
11-128839739-G-A
gnomAD v4:
11-128839739-G-A
PubMed:
PMID:19096086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839739G>A , CM000673.2:g.128839739G>A | GRCh38 |
| NC_000011.9:g.128709634G>A , CM000673.1:g.128709634G>A | GRCh37 |
| NC_000011.8:g.128214844G>A | NCBI36 |
| NG_009379.1:g.32635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.505C>T MANE Select | ENSP00000376434.1:p.Arg169Cys | |
| ENST00000324036.7:c.505C>T | ENSP00000316233.3:p.Arg169Cys | |
| ENST00000392664.2:c.562C>T | ENSP00000376432.2:p.Arg188Cys | |
| ENST00000392665.6:c.505C>T | ENSP00000376433.2:p.Arg169Cys | |
| ENST00000392666.5:c.505C>T | ENSP00000376434.1:p.Arg169Cys | |
| ENST00000440599.6:c.505C>T | ENSP00000406320.2:p.Arg169Cys | |
| NM_000220.4:c.562C>T | NP_000211.1:p.Arg188Cys | |
| NM_153764.2:c.505C>T | NP_722448.1:p.Arg169Cys | |
| NM_153765.2:c.556C>T | NP_722449.3:p.Arg186Cys | |
| NM_153766.2:c.505C>T | NP_722450.1:p.Arg169Cys | |
| NM_153767.3:c.505C>T | NP_722451.1:p.Arg169Cys | |
| NM_000220.6:c.562C>T | NP_000211.1:p.Arg188Cys | |
| NM_153764.3:c.505C>T | NP_722448.1:p.Arg169Cys | |
| NM_153765.3:c.556C>T | NP_722449.3:p.Arg186Cys | |
| NM_153766.3:c.505C>T MANE Select | NP_722450.1:p.Arg169Cys | |
| NM_153767.4:c.505C>T | NP_722451.1:p.Arg169Cys |