Linked Data
ClinVar Variation Id:
216903
ClinVar RCV Id:
RCV000197443
dbSNP Id:
rs863224857
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21415880G>A , CM000676.2:g.21415880G>A | GRCh38 |
| NC_000014.8:g.21884039G>A , CM000676.1:g.21884039G>A | GRCh37 |
| NC_000014.7:g.20953879G>A | NCBI36 |
| NG_021249.1:g.26419C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.907C>T | ENSP00000406288.3:p.Arg303Ter | |
| ENST00000555962.6:c.-110-12838C>T | ENSP00000495174.1:n.-110-12838C>T | |
| ENST00000557364.6:c.1744C>T | ENSP00000451601.1:p.Arg582Ter | |
| ENST00000642518.1:c.907C>T | ENSP00000496722.1:p.Arg303Ter | |
| ENST00000642914.1:n.727C>T | ||
| ENST00000643469.1:c.1744C>T | ENSP00000495070.1:p.Arg582Ter | |
| ENST00000645140.1:c.1656C>T | ||
| ENST00000645206.1:n.258C>T | ||
| ENST00000645929.1:c.907C>T | ENSP00000494402.1:p.Arg303Ter | |
| ENST00000646340.1:c.1750C>T | ENSP00000496730.1:p.Arg584Ter | |
| ENST00000646647.2:c.1744C>T MANE Select | ENSP00000495240.1:p.Arg582Ter | |
| ENST00000399982.6:c.1744C>T | ENSP00000382863.2:p.Arg582Ter | |
| ENST00000430710.7:c.907C>T | ENSP00000406288.3:p.Arg303Ter | |
| ENST00000555962.5:n.151-12838C>T | ||
| ENST00000557364.5:c.1744C>T | ENSP00000451601.1:p.Arg582Ter | |
| NM_001170629.1:c.1744C>T | NP_001164100.1:p.Arg582Ter | |
| NM_020920.3:c.907C>T | NP_065971.2:p.Arg303Ter | |
| NM_001170629.2:c.1744C>T MANE Select | NP_001164100.1:p.Arg582Ter | |
| NM_020920.4:c.907C>T | NP_065971.2:p.Arg303Ter |