Linked Data
ClinVar Variation Id:
1554935
ClinVar RCV Id:
RCV002192598
dbSNP Id:
rs148289726
ExAC:
1:155039270 C / T
gnomAD v2:
1-155039270-C-T
gnomAD v3:
1-155066794-C-T
gnomAD v4:
1-155066794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155066794C>T , CM000663.2:g.155066794C>T | GRCh38 |
| NC_000001.10:g.155039270C>T , CM000663.1:g.155039270C>T | GRCh37 |
| NC_000001.9:g.153305894C>T | NCBI36 |
| NG_029561.1:g.8058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368409.8:c.178C>T MANE Select | ENSP00000357394.3:p.His60Tyr | |
| ENST00000359751.8:c.178C>T | ENSP00000352789.4:p.His60Tyr | |
| ENST00000368409.7:c.178C>T | ENSP00000357394.3:p.His60Tyr | |
| ENST00000427683.2:c.178C>T | ENSP00000414378.2:p.His60Tyr | |
| ENST00000505139.1:c.113+2858C>T | ENSP00000426741.1:n.113+2858C>T | |
| NM_005227.2:c.178C>T | NP_005218.1:p.His60Tyr | |
| NM_182689.1:c.178C>T | NP_872631.1:p.His60Tyr | |
| NM_182690.2:c.178C>T | NP_872632.2:p.His60Tyr | |
| NM_005227.3:c.178C>T MANE Select | NP_005218.1:p.His60Tyr | |
| NM_182689.2:c.178C>T | NP_872631.1:p.His60Tyr | |
| NM_182690.3:c.178C>T | NP_872632.2:p.His60Tyr |