Linked Data
ClinVar Variation Id:
99066
dbSNP Id:
rs150774447
ExAC:
1:94577135 C / A
gnomAD v2:
1-94577135-C-A
gnomAD v4:
1-94111579-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94111579C>A , CM000663.2:g.94111579C>A | GRCh38 |
| NC_000001.10:g.94577135C>A , CM000663.1:g.94577135C>A | GRCh37 |
| NC_000001.9:g.94349723C>A | NCBI36 |
| NG_009073.1:g.14571G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.161G>T MANE Select | ENSP00000359245.3:p.Cys54Phe | |
| ENST00000649773.1:c.161G>T | ENSP00000496882.1:p.Cys54Phe | |
| ENST00000370225.3:c.161G>T | ENSP00000359245.3:p.Cys54Phe | |
| NM_000350.2:c.161G>T | NP_000341.2:p.Cys54Phe | |
| NM_000350.3:c.161G>T MANE Select | NP_000341.2:p.Cys54Phe |