Linked Data
ClinVar Variation Id:
217447
ClinVar RCV Id:
RCV000201397
dbSNP Id:
rs863225092
PubMed:
PMID:26160376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151811399G>A , CM000663.2:g.151811399G>A | GRCh38 |
| NC_000001.10:g.151783875G>A , CM000663.1:g.151783875G>A | GRCh37 |
| NC_000001.9:g.150050499G>A | NCBI36 |
| NG_029118.1:g.25474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652040.2:c.1036C>T | ENSP00000498548.2:p.Gln346Ter | |
| ENST00000697811.1:c.*3C>T | ENSP00000513447.1:n.*3C>T | |
| ENST00000318247.7:c.1321C>T MANE Select | ENSP00000327025.6:p.Gln441Ter | |
| ENST00000356728.11:c.1258C>T | ENSP00000349164.6:p.Gln420Ter | |
| ENST00000638901.1:c.1512C>T | ||
| ENST00000651814.1:c.*278C>T | ENSP00000498691.1:n.*278C>T | |
| ENST00000651893.1:c.598C>T | ||
| ENST00000318247.6:c.1321C>T | ENSP00000327025.6:p.Gln441Ter | |
| ENST00000356728.10:c.1258C>T | ENSP00000349164.6:p.Gln420Ter | |
| ENST00000480719.1:n.3391C>T | ||
| NM_001001523.1:c.1258C>T | NP_001001523.1:p.Gln420Ter | |
| NM_005060.3:c.1321C>T | NP_005051.2:p.Gln441Ter | |
| XM_006711484.2:c.1720C>T | XP_006711547.2:p.Gln574Ter | |
| XR_426792.2:n.2082C>T | ||
| XM_006711484.4:c.1720C>T | XP_006711547.2:p.Gln574Ter | |
| NM_005060.4:c.1321C>T MANE Select | NP_005051.2:p.Gln441Ter | |
| NM_001001523.2:c.1258C>T | NP_001001523.1:p.Gln420Ter |