Linked Data
ClinVar Variation Id:
53056
ClinVar RCV Id:
RCV000046070
dbSNP Id:
rs139042529
ExAC:
11:2591893 C / G
gnomAD v2:
11-2591893-C-G
gnomAD v3:
11-2570663-C-G
gnomAD v4:
11-2570663-C-G
PubMed:
PMID:12051962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570663C>G , CM000673.2:g.2570663C>G | GRCh38 |
| NC_000011.9:g.2591893C>G , CM000673.1:g.2591893C>G | GRCh37 |
| NC_000011.8:g.2548469C>G | NCBI36 |
| NG_008935.1:g.130673C>G , LRG_287:g.130673C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.252C>G | ENSP00000434560.2:p.Tyr84Ter | |
| ENST00000646564.2:c.478-12772C>G | ENSP00000495806.2:n.478-12772C>G | |
| ENST00000155840.12:c.513C>G MANE Select | ENSP00000155840.2:p.Tyr171Ter | |
| ENST00000335475.6:c.132C>G | ENSP00000334497.5:p.Tyr44Ter | |
| ENST00000646564.1:c.124-12772C>G | ENSP00000495806.1:n.124-12772C>G | |
| ENST00000155840.9:c.513C>G | ENSP00000155840.2:p.Tyr171Ter | |
| ENST00000335475.5:c.132C>G | ENSP00000334497.5:p.Tyr44Ter | |
| ENST00000496887.6:c.252C>G | ENSP00000434560.1:p.Tyr84Ter | |
| NM_000218.2:c.513C>G , LRG_287t1:c.513C>G | NP_000209.2:p.Tyr171Ter | |
| NM_181798.1:c.132C>G , LRG_287t2:c.132C>G | NP_861463.1:p.Tyr44Ter | |
| NM_000218.3:c.513C>G MANE Select | NP_000209.2:p.Tyr171Ter |