Linked Data
ClinVar Variation Id:
2878211
ClinVar RCV Id:
RCV003715390
dbSNP Id:
rs137952229
ExAC:
6:3155051 G / A
gnomAD v4:
6-3154817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154817G>A , CM000668.2:g.3154817G>A | GRCh38 |
| NC_000006.11:g.3155051G>A , CM000668.1:g.3155051G>A | GRCh37 |
| NC_000006.10:g.3100050G>A | NCBI36 |
| NG_042223.1:g.7733C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.384C>T MANE Select | ENSP00000369703.2:p.Asp128= | |
| ENST00000679400.1:n.440C>T | ||
| ENST00000679907.1:n.772C>T | ||
| ENST00000680036.1:n.1166C>T | ||
| ENST00000680967.1:n.1474C>T | ||
| ENST00000333628.3:c.384C>T | ENSP00000369703.2:p.Asp128= | |
| ENST00000489942.1:n.579C>T | ||
| NM_001069.2:c.384C>T | NP_001060.1:p.Asp128= | |
| NM_001310315.1:c.129C>T | NP_001297244.1:p.Asp43= | |
| NM_001069.3:c.384C>T MANE Select | NP_001060.1:p.Asp128= | |
| NM_001310315.2:c.129C>T | NP_001297244.1:p.Asp43= |