Linked Data
dbSNP Id:
rs770686826
ExAC:
1:94506820 T / A
gnomAD v2:
1-94506820-T-A
gnomAD v4:
1-94041264-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041264T>A , CM000663.2:g.94041264T>A | GRCh38 |
| NC_000001.10:g.94506820T>A , CM000663.1:g.94506820T>A | GRCh37 |
| NC_000001.9:g.94279408T>A | NCBI36 |
| NG_009073.1:g.84886A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3467A>T MANE Select | ENSP00000359245.3:p.Tyr1156Phe | |
| ENST00000370225.3:c.3467A>T | ENSP00000359245.3:p.Tyr1156Phe | |
| ENST00000536513.5:c.-64-1175A>T | ENSP00000439707.2:n.-64-1175A>T | |
| NM_000350.2:c.3467A>T | NP_000341.2:p.Tyr1156Phe | |
| NM_000350.3:c.3467A>T MANE Select | NP_000341.2:p.Tyr1156Phe |