Linked Data
ClinVar Variation Id:
235130
ClinVar RCV Id:
RCV000223938
dbSNP Id:
rs876661402
gnomAD v4:
6-109368871-G-A
PubMed:
PMID:26197441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109368871G>A , CM000668.2:g.109368871G>A | GRCh38 |
| NC_000006.11:g.109690074G>A , CM000668.1:g.109690074G>A | GRCh37 |
| NC_000006.10:g.109796767G>A | NCBI36 |
| NG_051926.1:g.18942C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310786.10:c.574C>T MANE Select | ENSP00000309376.4:p.Arg192Ter | |
| ENST00000504373.2:c.472C>T | ENSP00000422999.1:p.Arg158Ter | |
| ENST00000275080.11:c.535C>T | ENSP00000275080.7:p.Arg179Ter | |
| ENST00000310786.8:c.574C>T | ENSP00000309376.4:p.Arg192Ter | |
| ENST00000324953.9:c.517C>T | ENSP00000314177.5:p.Arg173Ter | |
| ENST00000368961.9:c.*126C>T | ENSP00000357957.6:n.*126C>T | |
| ENST00000413644.6:c.523+51C>T | ENSP00000402237.2:n.523+51C>T | |
| ENST00000415861.2:n.2606C>T | ||
| ENST00000499860.6:n.1253C>T | ||
| ENST00000504373.1:c.472C>T | ENSP00000422999.1:p.Arg158Ter | |
| ENST00000506649.5:n.591C>T | ||
| ENST00000512821.5:c.428-546C>T | ENSP00000427546.1:n.428-546C>T | |
| NM_001142401.1:c.535C>T | NP_001135873.1:p.Arg179Ter | |
| NM_001142402.1:c.517C>T | NP_001135874.1:p.Arg173Ter | |
| NM_001142403.1:c.523+51C>T | NP_001135875.1:n.523+51C>T | |
| NM_001142404.1:c.428-546C>T | NP_001135876.1:n.428-546C>T | |
| NM_006016.4:c.574C>T | NP_006007.2:p.Arg192Ter | |
| NM_001142401.2:c.535C>T | NP_001135873.1:p.Arg179Ter | |
| NM_001142402.2:c.517C>T | NP_001135874.1:p.Arg173Ter | |
| NM_001142403.2:c.523+51C>T | NP_001135875.1:n.523+51C>T | |
| NM_001142404.2:c.428-546C>T | NP_001135876.1:n.428-546C>T | |
| NM_001346500.1:c.472C>T | NP_001333429.1:p.Arg158Ter | |
| NM_006016.5:c.574C>T | NP_006007.2:p.Arg192Ter | |
| NM_006016.6:c.574C>T MANE Select | NP_006007.2:p.Arg192Ter | |
| NM_001142403.3:c.523+51C>T | NP_001135875.1:n.523+51C>T | |
| NM_001346500.2:c.472C>T | NP_001333429.1:p.Arg158Ter | |
| NM_001142401.3:c.535C>T | NP_001135873.1:p.Arg179Ter | |
| NM_001142402.3:c.517C>T | NP_001135874.1:p.Arg173Ter | |
| NM_001142404.3:c.428-546C>T | NP_001135876.1:n.428-546C>T |