Linked Data
ClinVar Variation Id:
14803
ClinVar RCV Id:
RCV000015926
dbSNP Id:
rs267606711
PubMed:
PMID:17709424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63930266G>A , CM000679.2:g.63930266G>A | GRCh38 |
| NC_000017.10:g.62007626G>A , CM000679.1:g.62007626G>A | GRCh37 |
| NC_000017.9:g.59361358G>A | NCBI36 |
| NG_007368.1:g.7079C>T , LRG_43:g.7079C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698624.1:n.235C>T | ||
| ENST00000006750.8:c.238C>T MANE Select | ENSP00000006750.4:p.Gln80Ter | |
| ENST00000647774.1:c.52-378C>T | ||
| ENST00000006750.7:c.238C>T | ENSP00000006750.3:p.Gln80Ter | |
| ENST00000349817.2:c.119-378C>T | ENSP00000245862.2:n.119-378C>T | |
| ENST00000392795.7:c.241C>T | ENSP00000376544.3:p.Gln81Ter | |
| ENST00000559358.1:n.249C>T | ||
| NM_000626.2:c.238C>T | NP_000617.1:p.Gln80Ter | |
| NM_001039933.1:c.241C>T , LRG_43t1:c.241C>T | NP_001035022.1:p.Gln81Ter | |
| NM_021602.2:c.119-378C>T | NP_067613.1:n.119-378C>T | |
| XM_005257858.3:c.122-378C>T | XP_005257915.1:n.122-378C>T | |
| NM_000626.3:c.238C>T | NP_000617.1:p.Gln80Ter | |
| NM_001039933.2:c.241C>T | NP_001035022.1:p.Gln81Ter | |
| NM_001329050.1:c.122-378C>T | NP_001315979.1:n.122-378C>T | |
| NM_021602.3:c.119-378C>T | NP_067613.1:n.119-378C>T | |
| NM_000626.4:c.238C>T MANE Select | NP_000617.1:p.Gln80Ter | |
| NM_001039933.3:c.241C>T | NP_001035022.1:p.Gln81Ter | |
| NM_001329050.2:c.122-378C>T | NP_001315979.1:n.122-378C>T | |
| NM_021602.4:c.119-378C>T | NP_067613.1:n.119-378C>T |