Linked Data
ClinVar Variation Id:
444401
dbSNP Id:
rs745492359
ExAC:
17:14110259 G / A
gnomAD v2:
17-14110259-G-A
gnomAD v3:
17-14206942-G-A
gnomAD v4:
17-14206942-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14206942G>A , CM000679.2:g.14206942G>A | GRCh38 |
| NC_000017.10:g.14110259G>A , CM000679.1:g.14110259G>A | GRCh37 |
| NC_000017.9:g.14050984G>A | NCBI36 |
| NG_008034.1:g.142541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.1061G>A MANE Select | ENSP00000261643.3:p.Arg354Gln | |
| ENST00000664217.1:c.1061G>A | ENSP00000499396.1:p.Arg354Gln | |
| ENST00000670279.1:c.929-2567G>A | ENSP00000499450.1:n.929-2567G>A | |
| ENST00000261643.7:c.1061G>A | ENSP00000261643.3:p.Arg354Gln | |
| ENST00000580561.1:c.*550G>A | ENSP00000462190.1:n.*550G>A | |
| ENST00000581931.5:c.*429G>A | ENSP00000462512.1:n.*429G>A | |
| NM_001303.3:c.1061G>A | NP_001294.2:p.Arg354Gln | |
| XM_011523658.1:c.485G>A | XP_011521960.1:p.Arg162Gln | |
| XR_933974.1:n.1032-2567G>A | ||
| NM_001303.4:c.1061G>A MANE Select | NP_001294.2:p.Arg354Gln |