Linked Data
ClinVar Variation Id:
322957
ClinVar RCV Id:
RCV000338161
dbSNP Id:
rs143241101
gnomAD v3:
17-38325942-C-T
gnomAD v4:
17-38325942-C-T
MyVariant Identifiers:
chr17:g.38325942C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38325942C>T , CM000679.2:g.38325942C>T | GRCh38 |
| NC_000017.9:g.33735351C>T | NCBI36 |
| NG_032655.2:g.22869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616987.5:c.*523G>A MANE Select | ENSP00000483469.2:n.*523G>A | |
| ENST00000616987.4:c.*523G>A | ENSP00000483469.1:n.*523G>A | |
| ENST00000621958.1:c.*523G>A | ENSP00000480024.1:n.*523G>A | |
| ENST00000622573.1:n.135-249G>A | ||
| NM_001004334.3:c.*523G>A | NP_001004334.3:n.*523G>A | |
| NM_001004334.4:c.*523G>A MANE Select | NP_001004334.3:n.*523G>A |