Linked Data
ClinVar Variation Id:
475653
ClinVar RCV Id:
RCV000534800
dbSNP Id:
rs183377866
ExAC:
20:44664168 G / A
gnomAD v2:
20-44664168-G-A
gnomAD v3:
20-46035529-G-A
gnomAD v4:
20-46035529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46035529G>A , CM000682.2:g.46035529G>A | GRCh38 |
| NC_000020.10:g.44664168G>A , CM000682.1:g.44664168G>A | GRCh37 |
| NC_000020.9:g.44097575G>A | NCBI36 |
| NG_046341.1:g.18840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.273G>A MANE Select | ENSP00000243964.4:p.Pro91= | |
| ENST00000243964.6:c.273G>A | ENSP00000243964.3:p.Pro91= | |
| ENST00000372315.4:n.422G>A | ||
| ENST00000454036.6:c.342G>A | ENSP00000387694.1:p.Pro114= | |
| ENST00000539566.3:c.273G>A | ENSP00000446091.1:p.Pro91= | |
| ENST00000608944.5:c.141G>A | ENSP00000476885.2:p.Pro47= | |
| ENST00000616201.4:c.273G>A | ENSP00000484585.1:p.Pro91= | |
| ENST00000616202.4:c.273G>A | ENSP00000478369.1:p.Pro91= | |
| ENST00000616933.4:c.273G>A | ENSP00000477569.1:p.Pro91= | |
| ENST00000622711.4:n.436G>A | ||
| ENST00000625683.2:n.436G>A | ||
| ENST00000626937.2:c.273G>A | ENSP00000485953.1:p.Pro91= | |
| ENST00000627290.2:c.*126G>A | ENSP00000487449.1:n.*126G>A | |
| ENST00000629054.2:n.797G>A | ||
| NM_001134771.1:c.342G>A | NP_001128243.1:p.Pro114= | |
| NM_020708.4:c.273G>A | NP_065759.1:p.Pro91= | |
| XM_017027981.1:c.342G>A | XP_016883470.1:p.Pro114= | |
| NM_001134771.2:c.342G>A | NP_001128243.1:p.Pro114= | |
| NM_020708.5:c.273G>A MANE Select | NP_065759.1:p.Pro91= |