Linked Data
ClinVar Variation Id:
178385
ClinVar RCV Id:
RCV000155132
RCV000247674
RCV000268526
RCV000323618
RCV000326765
RCV000378309
RCV000590559
RCV001094042
RCV001842485
dbSNP Id:
rs139042529
ExAC:
11:2591893 C / T
gnomAD v2:
11-2591893-C-T
gnomAD v3:
11-2570663-C-T
gnomAD v4:
11-2570663-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570663C>T , CM000673.2:g.2570663C>T | GRCh38 |
| NC_000011.9:g.2591893C>T , CM000673.1:g.2591893C>T | GRCh37 |
| NC_000011.8:g.2548469C>T | NCBI36 |
| NG_008935.1:g.130673C>T , LRG_287:g.130673C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.252C>T | ENSP00000434560.2:p.Tyr84= | |
| ENST00000646564.2:c.478-12772C>T | ENSP00000495806.2:n.478-12772C>T | |
| ENST00000155840.12:c.513C>T MANE Select | ENSP00000155840.2:p.Tyr171= | |
| ENST00000335475.6:c.132C>T | ENSP00000334497.5:p.Tyr44= | |
| ENST00000646564.1:c.124-12772C>T | ENSP00000495806.1:n.124-12772C>T | |
| ENST00000155840.9:c.513C>T | ENSP00000155840.2:p.Tyr171= | |
| ENST00000335475.5:c.132C>T | ENSP00000334497.5:p.Tyr44= | |
| ENST00000496887.6:c.252C>T | ENSP00000434560.1:p.Tyr84= | |
| NM_000218.2:c.513C>T , LRG_287t1:c.513C>T | NP_000209.2:p.Tyr171= | |
| NM_181798.1:c.132C>T , LRG_287t2:c.132C>T | NP_861463.1:p.Tyr44= | |
| NM_000218.3:c.513C>T MANE Select | NP_000209.2:p.Tyr171= |