Linked Data
dbSNP Id:
rs750396034
ExAC:
18:58039396 T / A
gnomAD v2:
18-58039396-T-A
gnomAD v4:
18-60372163-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372163T>A , CM000680.2:g.60372163T>A | GRCh38 |
| NC_000018.9:g.58039396T>A , CM000680.1:g.58039396T>A | GRCh37 |
| NC_000018.8:g.56190376T>A | NCBI36 |
| NG_016441.1:g.5606A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.187A>T MANE Select | ENSP00000299766.3:p.Ile63Phe | |
| ENST00000299766.4:c.187A>T | ENSP00000299766.3:p.Ile63Phe | |
| NM_005912.2:c.187A>T | NP_005903.2:p.Ile63Phe | |
| NM_005912.3:c.187A>T MANE Select | NP_005903.2:p.Ile63Phe |