Linked Data
ClinVar Variation Id:
102876
dbSNP Id:
rs62517168
ExAC:
12:103245530 T / A
gnomAD v2:
12-103245530-T-A
gnomAD v4:
12-102851752-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851752T>A , CM000674.2:g.102851752T>A | GRCh38 |
| NC_000012.11:g.103245530T>A , CM000674.1:g.103245530T>A | GRCh37 |
| NC_000012.10:g.101769660T>A | NCBI36 |
| NG_008690.1:g.70851A>T | |
| NG_008690.2:g.111659A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.847A>T MANE Select | ENSP00000448059.1:p.Ile283Phe | |
| ENST00000307000.7:c.832A>T | ENSP00000303500.2:p.Ile278Phe | |
| ENST00000549247.6:n.606A>T | ||
| ENST00000551114.2:n.509A>T | ||
| ENST00000553106.5:c.847A>T | ENSP00000448059.1:p.Ile283Phe | |
| ENST00000635477.1:c.8A>T | ||
| NM_000277.1:c.847A>T | NP_000268.1:p.Ile283Phe | |
| XM_011538422.1:c.847A>T | XP_011536724.1:p.Ile283Phe | |
| NM_000277.2:c.847A>T | NP_000268.1:p.Ile283Phe | |
| NM_001354304.1:c.847A>T | NP_001341233.1:p.Ile283Phe | |
| NM_000277.3:c.847A>T MANE Select | NP_000268.1:p.Ile283Phe | |
| NM_001354304.2:c.847A>T | NP_001341233.1:p.Ile283Phe |