Linked Data
ClinVar Variation Id:
6049
dbSNP Id:
rs145538723
ExAC:
10:73767264 T / A
gnomAD v2:
10-73767264-T-A
gnomAD v3:
10-72007506-T-A
gnomAD v4:
10-72007506-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007506T>A , CM000672.2:g.72007506T>A | GRCh38 |
| NC_000010.10:g.73767264T>A , CM000672.1:g.73767264T>A | GRCh37 |
| NC_000010.9:g.73437270T>A | NCBI36 |
| NG_012635.1:g.48145T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373115.5:c.475T>A MANE Select | ENSP00000362207.4:p.Phe159Ile | |
| ENST00000373115.4:c.475T>A | ENSP00000362207.4:p.Phe159Ile | |
| NM_004273.4:c.475T>A | NP_004264.2:p.Phe159Ile | |
| XM_006718075.2:c.475T>A | XP_006718138.1:p.Phe159Ile | |
| XM_011540369.1:c.475T>A | XP_011538671.1:p.Phe159Ile | |
| XM_006718075.4:c.475T>A | XP_006718138.1:p.Phe159Ile | |
| XM_011540369.2:c.475T>A | XP_011538671.1:p.Phe159Ile | |
| NM_004273.5:c.475T>A MANE Select | NP_004264.2:p.Phe159Ile |