Linked Data
ClinVar Variation Id:
330531
ClinVar RCV Id:
RCV000369978
dbSNP Id:
rs767028461
ExAC:
19:7620239 C / A
gnomAD v2:
19-7620239-C-A
gnomAD v3:
19-7555353-C-A
gnomAD v4:
19-7555353-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7555353C>A , CM000681.2:g.7555353C>A | GRCh38 |
| NC_000019.9:g.7620239C>A , CM000681.1:g.7620239C>A | GRCh37 |
| NC_000019.8:g.7526239C>A | NCBI36 |
| NG_013374.1:g.26202C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2922C>A MANE Select | ENSP00000473211.1:p.Gly974= | |
| ENST00000646984.1:c.93C>A | ENSP00000496219.1:p.Gly31= | |
| ENST00000221249.10:c.2808C>A | ENSP00000221249.5:p.Gly936= | |
| ENST00000414982.7:c.2952C>A | ENSP00000407509.2:p.Gly984= | |
| ENST00000450331.7:c.2808C>A | ENSP00000394348.2:p.Gly936= | |
| ENST00000545201.6:c.2727C>A | ENSP00000443323.1:p.Gly909= | |
| ENST00000600737.5:c.2922C>A | ENSP00000473211.1:p.Gly974= | |
| NM_001166111.1:c.2952C>A | NP_001159583.1:p.Gly984= | |
| NM_001166112.1:c.2727C>A | NP_001159584.1:p.Gly909= | |
| NM_001166113.1:c.2808C>A | NP_001159585.1:p.Gly936= | |
| NM_001166114.1:c.2922C>A | NP_001159586.1:p.Gly974= | |
| NM_006702.4:c.2808C>A | NP_006693.3:p.Gly936= | |
| NM_001166111.2:c.2952C>A | NP_001159583.1:p.Gly984= | |
| NM_001166114.2:c.2922C>A MANE Select | NP_001159586.1:p.Gly974= | |
| NM_006702.5:c.2808C>A | NP_006693.3:p.Gly936= | |
| NM_001166112.2:c.2727C>A | NP_001159584.1:p.Gly909= |