Linked Data
ClinVar Variation Id:
2510683
ClinVar RCV Id:
RCV004286267
dbSNP Id:
rs376647266
ExAC:
16:31097671 T / C
gnomAD v2:
16-31097671-T-C
gnomAD v3:
16-31086350-T-C
gnomAD v4:
16-31086350-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31086350T>C , CM000678.2:g.31086350T>C | GRCh38 |
| NC_000016.9:g.31097671T>C , CM000678.1:g.31097671T>C | GRCh37 |
| NC_000016.8:g.31005172T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280606.7:c.650A>G MANE Select | ENSP00000280606.6:p.Gln217Arg | |
| ENST00000280606.6:c.650A>G | ENSP00000280606.6:p.Gln217Arg | |
| ENST00000486499.1:n.3279A>G | ||
| ENST00000492427.2:n.1600A>G | ||
| ENST00000533518.5:c.999A>G | ||
| NM_001039503.2:c.650A>G | NP_001034592.1:p.Gln217Arg | |
| XM_011545816.1:c.791A>G | XP_011544118.1:p.Gln264Arg | |
| XM_011545817.1:c.791A>G | XP_011544119.1:p.Gln264Arg | |
| XM_011545818.1:c.791A>G | XP_011544120.1:p.Gln264Arg | |
| XM_011545819.1:c.650A>G | XP_011544121.1:p.Gln217Arg | |
| XM_011545820.1:c.650A>G | XP_011544122.1:p.Gln217Arg | |
| XM_011545816.2:c.791A>G | XP_011544118.1:p.Gln264Arg | |
| XM_011545817.2:c.791A>G | XP_011544119.1:p.Gln264Arg | |
| XM_011545818.3:c.791A>G | XP_011544120.1:p.Gln264Arg | |
| XM_011545819.2:c.650A>G | XP_011544121.1:p.Gln217Arg | |
| XM_011545820.2:c.650A>G | XP_011544122.1:p.Gln217Arg | |
| NM_001039503.3:c.650A>G MANE Select | NP_001034592.1:p.Gln217Arg |