Linked Data
ClinVar Variation Id:
322975
dbSNP Id:
rs200936863
gnomAD v3:
17-38327594-C-T
gnomAD v4:
17-38327594-C-T
MyVariant Identifiers:
chr17:g.38327594C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38327594C>T , CM000679.2:g.38327594C>T | GRCh38 |
| NC_000017.9:g.33737003C>T | NCBI36 |
| NG_032655.2:g.21217G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616987.5:c.5975G>A MANE Select | ENSP00000483469.2:p.Gly1992Asp | |
| ENST00000616987.4:c.5975G>A | ENSP00000483469.1:p.Gly1992Asp | |
| ENST00000621958.1:c.5978G>A | ENSP00000480024.1:p.Gly1993Asp | |
| ENST00000622573.1:n.134+776G>A | ||
| NM_001004334.3:c.5975G>A | NP_001004334.3:p.Gly1992Asp | |
| NM_001004334.4:c.5975G>A MANE Select | NP_001004334.3:p.Gly1992Asp |