Linked Data
ClinVar Variation Id:
2821800
ClinVar RCV Id:
RCV003616401
dbSNP Id:
rs1597980227
gnomAD v4:
17-63961345-G-A
MyVariant Identifiers:
chr17:g.62038705G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63961345G>A , CM000679.2:g.63961345G>A | GRCh38 |
| NC_000017.10:g.62038705G>A , CM000679.1:g.62038705G>A | GRCh37 |
| NC_000017.9:g.59392437G>A | NCBI36 |
| NG_011699.1:g.16574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1693C>T MANE Select | ENSP00000396320.1:p.Leu565= | |
| ENST00000578147.5:c.1693C>T | ENSP00000463963.1:p.Leu565= | |
| ENST00000581514.1:n.349C>T | ||
| NM_000334.4:c.1693C>T MANE Select | NP_000325.4:p.Leu565= | |
| XM_005257566.3:c.1693C>T | XP_005257623.1:p.Leu565= | |
| XR_934910.1:n.124+623G>A | ||
| XR_001752969.1:n.1276+623G>A | ||
| XR_934910.2:n.1276+623G>A |