Linked Data
dbSNP Id:
rs758100380
ExAC:
1:94508925 G / A
gnomAD v2:
1-94508925-G-A
gnomAD v4:
1-94043369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043369G>A , CM000663.2:g.94043369G>A | GRCh38 |
| NC_000001.10:g.94508925G>A , CM000663.1:g.94508925G>A | GRCh37 |
| NC_000001.9:g.94281513G>A | NCBI36 |
| NG_009073.1:g.82781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3157C>T MANE Select | ENSP00000359245.3:p.His1053Tyr | |
| ENST00000370225.3:c.3157C>T | ENSP00000359245.3:p.His1053Tyr | |
| ENST00000536513.5:c.-64-3280C>T | ENSP00000439707.2:n.-64-3280C>T | |
| NM_000350.2:c.3157C>T | NP_000341.2:p.His1053Tyr | |
| NM_000350.3:c.3157C>T MANE Select | NP_000341.2:p.His1053Tyr |