Linked Data
ClinVar Variation Id:
2588448
ClinVar RCV Id:
RCV003339372
dbSNP Id:
rs528176382
ExAC:
17:76421486 C / T
gnomAD v2:
17-76421486-C-T
gnomAD v3:
17-78425405-C-T
gnomAD v4:
17-78425405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78425405C>T , CM000679.2:g.78425405C>T | GRCh38 |
| NC_000017.10:g.76421486C>T , CM000679.1:g.76421486C>T | GRCh37 |
| NC_000017.9:g.73933081C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.13082G>A MANE Select | ENSP00000374490.6:p.Arg4361Gln | |
| ENST00000389840.6:c.13082G>A | ENSP00000374490.6:p.Arg4361Gln | |
| ENST00000585328.5:c.13067G>A | ENSP00000465516.1:p.Arg4356Gln | |
| ENST00000586052.5:n.6243G>A | ||
| ENST00000590227.5:n.2756G>A | ||
| ENST00000591369.5:c.4704G>A | ||
| NM_173628.3:c.13082G>A | NP_775899.3:p.Arg4361Gln | |
| XM_011525416.1:c.13094G>A | XP_011523718.1:p.Arg4365Gln | |
| XM_011525418.1:c.6461G>A | XP_011523720.1:p.Arg2154Gln | |
| XM_011525416.2:c.13094G>A | XP_011523718.1:p.Arg4365Gln | |
| XM_017025261.2:c.6428G>A | XP_016880750.1:p.Arg2143Gln | |
| XM_024451013.1:c.12950G>A | XP_024306781.1:p.Arg4317Gln | |
| NM_173628.4:c.13082G>A MANE Select | NP_775899.3:p.Arg4361Gln |