Linked Data
ClinVar Variation Id:
5784
dbSNP Id:
rs121908483
ExAC:
19:33350845 C / T
gnomAD v2:
19-33350845-C-T
gnomAD v3:
19-32859939-C-T
gnomAD v4:
19-32859939-C-T
PubMed:
PMID:10471498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32859939C>T , CM000681.2:g.32859939C>T | GRCh38 |
| NC_000019.9:g.33350845C>T , CM000681.1:g.33350845C>T | GRCh37 |
| NC_000019.8:g.38042685C>T | NCBI36 |
| NG_008258.1:g.14839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.775G>A MANE Select | ENSP00000023064.3:p.Gly259Arg | |
| ENST00000023064.8:c.775G>A | ENSP00000023064.3:p.Gly259Arg | |
| ENST00000587772.1:c.775G>A | ENSP00000468439.1:p.Gly259Arg | |
| ENST00000589659.1:n.720G>A | ||
| ENST00000590341.5:c.775G>A | ENSP00000464822.1:p.Gly259Arg | |
| ENST00000590465.5:c.*922G>A | ENSP00000468076.1:n.*922G>A | |
| ENST00000592232.5:c.*281G>A | ENSP00000465563.1:n.*281G>A | |
| NM_001126335.1:c.775G>A | NP_001119807.1:p.Gly259Arg | |
| NM_001243036.1:c.775G>A | NP_001229965.1:p.Gly259Arg | |
| NM_014270.4:c.775G>A | NP_055085.1:p.Gly259Arg | |
| XM_006722992.1:c.94G>A | XP_006723055.1:p.Gly32Arg | |
| XM_011526402.1:c.775G>A | XP_011524704.1:p.Gly259Arg | |
| XM_011526402.3:c.775G>A | XP_011524704.1:p.Gly259Arg | |
| XM_017026230.1:c.511G>A | XP_016881719.1:p.Gly171Arg | |
| XM_024451334.1:c.148G>A | XP_024307102.1:p.Gly50Arg | |
| NM_014270.5:c.775G>A MANE Select | NP_055085.1:p.Gly259Arg | |
| NM_001126335.2:c.775G>A | NP_001119807.1:p.Gly259Arg | |
| NM_001243036.2:c.775G>A | NP_001229965.1:p.Gly259Arg |