Linked Data
ClinVar Variation Id:
56415
ClinVar RCV Id:
RCV000049828
dbSNP Id:
rs386833859
gnomAD v4:
16-81082964-C-A
PubMed:
PMID:12402263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81082964C>A , CM000678.2:g.81082964C>A | GRCh38 |
| NC_000016.9:g.81116569C>A , CM000678.1:g.81116569C>A | GRCh37 |
| NC_000016.8:g.79674070C>A | NCBI36 |
| NG_016427.1:g.18412G>T , LRG_541:g.18412G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315467.9:c.425-1G>T MANE Select | ENSP00000319531.3:n.425-1G>T | |
| ENST00000561801.2:c.260-1G>T | ENSP00000457645.2:n.260-1G>T | |
| ENST00000564386.6:c.348-1G>T | ||
| ENST00000564536.2:c.424+1499G>T | ENSP00000491651.1:n.424+1499G>T | |
| ENST00000569885.6:c.191-1G>T | ||
| ENST00000638192.1:c.131+13167G>T | ||
| ENST00000638948.1:c.379+1499G>T | ENSP00000491484.1:n.379+1499G>T | |
| ENST00000639137.1:n.858-1G>T | ||
| ENST00000639169.1:c.*1434G>T | ENSP00000491127.1:n.*1434G>T | |
| ENST00000639689.1:c.*1666G>T | ENSP00000492187.1:n.*1666G>T | |
| ENST00000640150.1:c.205-1G>T | ||
| ENST00000640345.1:c.424+1499G>T | ENSP00000492798.1:n.424+1499G>T | |
| ENST00000640370.1:c.424+1499G>T | ENSP00000492599.1:n.424+1499G>T | |
| ENST00000315467.7:c.425-1G>T | ENSP00000319531.3:n.425-1G>T | |
| ENST00000561801.1:c.260-1G>T | ||
| ENST00000564386.5:c.345-1G>T | ||
| ENST00000569885.5:c.191-1G>T | ||
| NM_004483.4:c.425-1G>T , LRG_541t1:c.425-1G>T | NP_004474.2:n.425-1G>T | |
| NR_033249.1:n.458-1G>T | ||
| XM_017023136.2:c.442G>T | XP_016878625.1:p.Gly148Cys | |
| XM_017023137.1:c.388G>T | XP_016878626.1:p.Gly130Cys | |
| NM_004483.5:c.425-1G>T MANE Select | NP_004474.2:n.425-1G>T | |
| NR_033249.2:n.478-1G>T |