Linked Data
ClinVar Variation Id:
1463587
ClinVar RCV Id:
RCV001961123
dbSNP Id:
rs1209359519
gnomAD v2:
17-7125605-T-A
gnomAD v3:
17-7222286-T-A
gnomAD v4:
17-7222286-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222286T>A , CM000679.2:g.7222286T>A | GRCh38 |
| NC_000017.10:g.7125605T>A , CM000679.1:g.7125605T>A | GRCh37 |
| NC_000017.9:g.7066329T>A | NCBI36 |
| NG_007975.1:g.7453T>A | |
| NG_008391.2:g.2765A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.862T>A MANE Select | ENSP00000349297.5:p.Phe288Ile | |
| ENST00000322910.9:c.*817T>A | ENSP00000325395.5:n.*817T>A | |
| ENST00000350303.9:c.796T>A | ENSP00000344152.5:p.Phe266Ile | |
| ENST00000356839.9:c.862T>A | ENSP00000349297.5:p.Phe288Ile | |
| ENST00000543245.6:c.931T>A | ENSP00000438689.2:p.Phe311Ile | |
| ENST00000577191.5:n.1034T>A | ||
| ENST00000581378.5:c.580T>A | ||
| ENST00000582379.1:n.246T>A | ||
| NM_000018.3:c.862T>A | NP_000009.1:p.Phe288Ile | |
| NM_001033859.2:c.796T>A | NP_001029031.1:p.Phe266Ile | |
| NM_001270447.1:c.931T>A | NP_001257376.1:p.Phe311Ile | |
| NM_001270448.1:c.634T>A | NP_001257377.1:p.Phe212Ile | |
| XM_006721516.2:c.862T>A | XP_006721579.2:p.Phe288Ile | |
| XM_011523829.1:c.862T>A | XP_011522131.1:p.Phe288Ile | |
| XM_011523830.1:c.862T>A | XP_011522132.1:p.Phe288Ile | |
| XR_934021.1:n.969T>A | ||
| XR_934022.1:n.969T>A | ||
| XR_934023.1:n.969T>A | ||
| XM_006721516.3:c.862T>A | XP_006721579.2:p.Phe288Ile | |
| XM_011523829.2:c.862T>A | XP_011522131.1:p.Phe288Ile | |
| XM_011523830.2:c.862T>A | XP_011522132.1:p.Phe288Ile | |
| XM_024450741.1:c.862T>A | XP_024306509.1:p.Phe288Ile | |
| XR_934021.2:n.921T>A | ||
| XR_934022.2:n.921T>A | ||
| XR_934023.2:n.921T>A | ||
| NM_000018.4:c.862T>A MANE Select | NP_000009.1:p.Phe288Ile | |
| NM_001033859.3:c.796T>A | NP_001029031.1:p.Phe266Ile | |
| NM_001270447.2:c.931T>A | NP_001257376.1:p.Phe311Ile | |
| NM_001270448.2:c.634T>A | NP_001257377.1:p.Phe212Ile |