Linked Data
dbSNP Id:
rs2120108623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648002T>A , CM000673.2:g.69648002T>A | GRCh38 |
| NC_000011.9:g.69462770T>A , CM000673.1:g.69462770T>A | GRCh37 |
| NC_000011.8:g.69171951T>A | NCBI36 |
| NG_007375.1:g.11898T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.583T>A MANE Select | ENSP00000227507.2:p.Phe195Ile | |
| ENST00000227507.2:c.583T>A | ENSP00000227507.2:p.Phe195Ile | |
| ENST00000536559.1:c.*3T>A | ENSP00000438482.1:n.*3T>A | |
| ENST00000542367.1:n.46T>A | ||
| ENST00000545484.1:n.289T>A | ||
| NM_053056.2:c.583T>A | NP_444284.1:p.Phe195Ile | |
| XM_006718653.2:c.607T>A | XP_006718716.1:p.Phe203Ile | |
| NM_053056.3:c.583T>A MANE Select | NP_444284.1:p.Phe195Ile |