Linked Data
ClinVar Variation Id:
139633
ClinVar RCV Id:
RCV000128576
dbSNP Id:
rs587777524
PubMed:
PMID:24531329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50893503G>T , CM000682.2:g.50893503G>T | GRCh38 |
| NC_000020.10:g.49510040G>T , CM000682.1:g.49510040G>T | GRCh37 |
| NC_000020.9:g.48943447G>T | NCBI36 |
| NG_034200.1:g.42488C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349014.8:c.1211C>A | ENSP00000342905.3:p.Ser404Ter | |
| ENST00000371602.9:c.1211C>A | ENSP00000360662.2:p.Ser404Ter | |
| ENST00000396029.8:c.1211C>A | ENSP00000379346.3:p.Ser404Ter | |
| ENST00000396032.8:c.1211C>A | ENSP00000379349.2:p.Ser404Ter | |
| ENST00000621696.5:c.1211C>A MANE Select | ENSP00000483881.1:p.Ser404Ter | |
| ENST00000644386.1:c.202-3546C>A | ENSP00000493755.1:n.202-3546C>A | |
| ENST00000645081.1:c.527C>A | ENSP00000495540.1:p.Ser176Ter | |
| ENST00000673732.1:c.1427C>A | ENSP00000501294.1:p.Ser476Ter | |
| ENST00000349014.7:c.1211C>A | ENSP00000342905.3:p.Ser404Ter | |
| ENST00000371602.8:c.1211C>A | ENSP00000360662.2:p.Ser404Ter | |
| ENST00000396029.7:c.1211C>A | ENSP00000379346.3:p.Ser404Ter | |
| ENST00000396032.7:c.1211C>A | ENSP00000379349.2:p.Ser404Ter | |
| ENST00000621696.4:c.1211C>A | ENSP00000483881.1:p.Ser404Ter | |
| NM_001282531.1:c.1211C>A | NP_001269460.1:p.Ser404Ter | |
| NM_001282532.1:c.1211C>A | NP_001269461.1:p.Ser404Ter | |
| NM_015339.3:c.1211C>A | NP_056154.1:p.Ser404Ter | |
| NM_181442.2:c.1211C>A | NP_852107.1:p.Ser404Ter | |
| XM_011528747.1:c.1211C>A | XP_011527049.1:p.Ser404Ter | |
| XM_011528748.1:c.1238C>A | XP_011527050.1:p.Ser413Ter | |
| NM_001282531.2:c.1211C>A | NP_001269460.1:p.Ser404Ter | |
| NM_001347511.1:c.1211C>A | NP_001334440.1:p.Ser404Ter | |
| NM_015339.4:c.1211C>A | NP_056154.1:p.Ser404Ter | |
| NM_181442.3:c.1211C>A | NP_852107.1:p.Ser404Ter | |
| XM_011528747.2:c.1211C>A | XP_011527049.1:p.Ser404Ter | |
| XM_011528748.2:c.1238C>A | XP_011527050.1:p.Ser413Ter | |
| XM_017027758.1:c.1211C>A | XP_016883247.1:p.Ser404Ter | |
| XM_017027759.1:c.1211C>A | XP_016883248.1:p.Ser404Ter | |
| NM_001282531.3:c.1211C>A MANE Select | NP_001269460.1:p.Ser404Ter | |
| NM_001347511.2:c.1211C>A | NP_001334440.1:p.Ser404Ter | |
| NM_015339.5:c.1211C>A | NP_056154.1:p.Ser404Ter | |
| NM_181442.4:c.1211C>A | NP_852107.1:p.Ser404Ter | |
| NM_001282532.2:c.1211C>A | NP_001269461.1:p.Ser404Ter |