Linked Data
ClinVar Variation Id:
2982792
ClinVar RCV Id:
RCV003845423
dbSNP Id:
rs1237161492
gnomAD v2:
17-4802673-G-A
gnomAD v4:
17-4899378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899378G>A , CM000679.2:g.4899378G>A | GRCh38 |
| NC_000017.10:g.4802673G>A , CM000679.1:g.4802673G>A | GRCh37 |
| NC_000017.9:g.4743452G>A | NCBI36 |
| NG_008029.2:g.8698C>T | |
| NG_028005.1:g.71039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1039C>T MANE Select | ENSP00000497829.1:p.Leu347= | |
| ENST00000649830.1:c.106C>T | ENSP00000496907.1:p.Leu36= | |
| ENST00000652550.1:n.769C>T | ||
| ENST00000293780.4:c.1039C>T | ENSP00000293780.4:p.Leu347= | |
| ENST00000572438.1:n.725C>T | ||
| NM_000080.3:c.1039C>T | NP_000071.1:p.Leu347= | |
| NM_000080.4:c.1039C>T MANE Select | NP_000071.1:p.Leu347= | |
| XM_017024115.1:c.1003C>T | XP_016879604.1:p.Leu335= | |
| XR_001752421.1:n.1769C>T |