Linked Data
ClinVar Variation Id:
2172660
ClinVar RCV Id:
RCV003083156
dbSNP Id:
rs1450130627
gnomAD v2:
17-62018423-C-T
gnomAD v4:
17-63941063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941063C>T , CM000679.2:g.63941063C>T | GRCh38 |
| NC_000017.10:g.62018423C>T , CM000679.1:g.62018423C>T | GRCh37 |
| NC_000017.9:g.59372155C>T | NCBI36 |
| NG_011699.1:g.36856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5219G>A MANE Select | ENSP00000396320.1:p.Arg1740Gln | |
| ENST00000578147.5:c.5219G>A | ENSP00000463963.1:p.Arg1740Gln | |
| NM_000334.4:c.5219G>A MANE Select | NP_000325.4:p.Arg1740Gln | |
| XM_005257566.3:c.5219G>A | XP_005257623.1:p.Arg1740Gln |