Linked Data
ClinVar Variation Id:
586519
dbSNP Id:
rs1199222144
gnomAD v2:
17-62019270-C-A
gnomAD v4:
17-63941910-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941910C>A , CM000679.2:g.63941910C>A | GRCh38 |
| NC_000017.10:g.62019270C>A , CM000679.1:g.62019270C>A | GRCh37 |
| NC_000017.9:g.59373002C>A | NCBI36 |
| NG_011699.1:g.36009G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4372G>T MANE Select | ENSP00000396320.1:p.Val1458Phe | |
| ENST00000578147.5:c.4372G>T | ENSP00000463963.1:p.Val1458Phe | |
| NM_000334.4:c.4372G>T MANE Select | NP_000325.4:p.Val1458Phe | |
| XM_005257566.3:c.4372G>T | XP_005257623.1:p.Val1458Phe |