Linked Data
ClinVar Variation Id:
303573
dbSNP Id:
rs201707868
ExAC:
11:128709562 G / A
gnomAD v2:
11-128709562-G-A
gnomAD v3:
11-128839667-G-A
gnomAD v4:
11-128839667-G-A
COSMIC:
COSM3383313
PubMed:
PMID:19096086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839667G>A , CM000673.2:g.128839667G>A | GRCh38 |
| NC_000011.9:g.128709562G>A , CM000673.1:g.128709562G>A | GRCh37 |
| NC_000011.8:g.128214772G>A | NCBI36 |
| NG_009379.1:g.32707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.577C>T MANE Select | ENSP00000376434.1:p.Arg193Ter | |
| ENST00000324036.7:c.577C>T | ENSP00000316233.3:p.Arg193Ter | |
| ENST00000392664.2:c.634C>T | ENSP00000376432.2:p.Arg212Ter | |
| ENST00000392665.6:c.577C>T | ENSP00000376433.2:p.Arg193Ter | |
| ENST00000392666.5:c.577C>T | ENSP00000376434.1:p.Arg193Ter | |
| ENST00000440599.6:c.577C>T | ENSP00000406320.2:p.Arg193Ter | |
| NM_000220.4:c.634C>T | NP_000211.1:p.Arg212Ter | |
| NM_153764.2:c.577C>T | NP_722448.1:p.Arg193Ter | |
| NM_153765.2:c.628C>T | NP_722449.3:p.Arg210Ter | |
| NM_153766.2:c.577C>T | NP_722450.1:p.Arg193Ter | |
| NM_153767.3:c.577C>T | NP_722451.1:p.Arg193Ter | |
| NM_000220.6:c.634C>T | NP_000211.1:p.Arg212Ter | |
| NM_153764.3:c.577C>T | NP_722448.1:p.Arg193Ter | |
| NM_153765.3:c.628C>T | NP_722449.3:p.Arg210Ter | |
| NM_153766.3:c.577C>T MANE Select | NP_722450.1:p.Arg193Ter | |
| NM_153767.4:c.577C>T | NP_722451.1:p.Arg193Ter |