Linked Data
ClinVar Variation Id:
1942220
ClinVar RCV Id:
RCV002646690
dbSNP Id:
rs1226842567
gnomAD v2:
17-15930728-G-A
gnomAD v3:
17-16027414-G-A
gnomAD v4:
17-16027414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027414G>A , CM000679.2:g.16027414G>A | GRCh38 |
| NC_000017.10:g.15930728G>A , CM000679.1:g.15930728G>A | GRCh37 |
| NC_000017.9:g.15871453G>A | NCBI36 |
| NG_029806.1:g.33035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.1035G>A MANE Select | ENSP00000261647.5:p.Leu345= | |
| ENST00000261647.9:c.1035G>A | ENSP00000261647.5:p.Leu345= | |
| ENST00000465567.1:n.1429G>A | ||
| ENST00000470649.1:c.247+712G>A | ENSP00000465627.1:n.247+712G>A | |
| ENST00000475723.5:c.1219G>A | ||
| ENST00000481107.1:n.1703G>A | ||
| ENST00000497842.6:n.1239G>A | ||
| NM_001271420.1:c.714G>A | NP_001258349.1:p.Leu238= | |
| NM_017775.3:c.1035G>A | NP_060245.3:p.Leu345= | |
| XM_017024801.2:c.994+712G>A | XP_016880290.2:n.994+712G>A | |
| XM_017024802.2:c.994+712G>A | XP_016880291.2:n.994+712G>A | |
| NM_017775.4:c.1035G>A MANE Select | NP_060245.3:p.Leu345= | |
| NM_001271420.2:c.714G>A | NP_001258349.1:p.Leu238= |