Linked Data
ClinVar Variation Id:
1165734
ClinVar RCV Id:
RCV001513110
dbSNP Id:
rs7541
ExAC:
1:156025096 C / T
gnomAD v2:
1-156025096-C-T
gnomAD v3:
1-156055305-C-T
gnomAD v4:
1-156055305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156055305C>T , CM000663.2:g.156055305C>T | GRCh38 |
| NC_000001.10:g.156025096C>T , CM000663.1:g.156025096C>T | GRCh37 |
| NC_000001.9:g.154291720C>T | NCBI36 |
| NG_009898.1:g.5580C>T , LRG_81:g.5580C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368305.9:c.111C>T MANE Select | ENSP00000357288.4:p.Tyr37= | |
| ENST00000368302.3:c.111C>T | ENSP00000357285.3:p.Tyr37= | |
| ENST00000368304.9:c.111C>T | ENSP00000357287.5:p.Tyr37= | |
| ENST00000368305.8:c.111C>T | ENSP00000357288.4:p.Tyr37= | |
| ENST00000487106.5:n.221C>T | ||
| ENST00000489664.1:n.180C>T | ||
| NM_001145264.1:c.111C>T | NP_001138736.1:p.Tyr37= | |
| NM_014017.3:c.111C>T , LRG_81t1:c.111C>T | NP_054736.1:p.Tyr37= | |
| NM_001145264.2:c.111C>T | NP_001138736.1:p.Tyr37= | |
| NM_014017.4:c.111C>T MANE Select | NP_054736.1:p.Tyr37= |