Linked Data
ClinVar Variation Id:
219837
ClinVar RCV Id:
RCV000206188
dbSNP Id:
rs121918476
ExAC:
3:93595999 G / A
gnomAD v2:
3-93595999-G-A
gnomAD v3:
3-93877155-G-A
gnomAD v4:
3-93877155-G-A
PubMed:
PMID:10447256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93877155G>A , CM000665.2:g.93877155G>A | GRCh38 |
| NC_000003.11:g.93595999G>A , CM000665.1:g.93595999G>A | GRCh37 |
| NC_000003.10:g.95078689G>A | NCBI36 |
| NG_009813.1:g.101936C>T , LRG_572:g.101936C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1681C>T | ENSP00000330021.7:p.Arg561Trp | |
| ENST00000394236.9:c.1681C>T MANE Select | ENSP00000377783.3:p.Arg561Trp | |
| ENST00000407433.6:c.1636C>T | ENSP00000385794.2:p.Arg546Trp | |
| ENST00000647936.1:c.1644+2008C>T | ENSP00000496822.1:n.1644+2008C>T | |
| ENST00000648381.1:n.1849C>T | ||
| ENST00000648853.1:c.1639C>T | ENSP00000497262.1:p.Arg547Trp | |
| ENST00000649103.1:c.1780C>T | ENSP00000497962.1:n.1780C>T | |
| ENST00000649585.1:c.624C>T | ENSP00000498163.1:n.624C>T | |
| ENST00000650591.1:c.1777C>T | ENSP00000497376.1:p.Arg593Trp | |
| ENST00000394236.7:c.1681C>T | ENSP00000377783.3:p.Arg561Trp | |
| ENST00000407433.5:c.1288C>T | ENSP00000385794.1:p.Arg430Trp | |
| NM_000313.3:c.1681C>T , LRG_572t1:c.1681C>T | NP_000304.2:p.Arg561Trp | |
| NM_001314077.1:c.1777C>T , LRG_572t2:c.1777C>T | NP_001301006.1:p.Arg593Trp | |
| NM_000313.4:c.1681C>T MANE Select | NP_000304.2:p.Arg561Trp | |
| NM_001314077.2:c.1777C>T | NP_001301006.1:p.Arg593Trp |