Linked Data
ClinVar Variation Id:
224721
ClinVar RCV Id:
RCV000210289
dbSNP Id:
rs756550597
PubMed:
PMID:26365382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8921250G>C , CM000678.2:g.8921250G>C | GRCh38 |
| NC_000016.9:g.9015107G>C , CM000678.1:g.9015107G>C | GRCh37 |
| NC_000016.8:g.8922608G>C | NCBI36 |
| NG_046847.1:g.47235C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700579.1:n.464C>G | ||
| ENST00000344836.9:c.429C>G MANE Select | ENSP00000343535.4:p.Tyr143Ter | |
| ENST00000673704.1:c.534C>G | ENSP00000501290.1:p.Tyr178Ter | |
| ENST00000344836.8:c.429C>G | ENSP00000343535.4:p.Tyr143Ter | |
| ENST00000381886.8:c.381C>G | ENSP00000371310.4:p.Tyr127Ter | |
| ENST00000542333.5:c.255C>G | ENSP00000439272.1:p.Tyr85Ter | |
| ENST00000563085.5:c.132C>G | ENSP00000454795.1:p.Tyr44Ter | |
| ENST00000563961.5:c.*14C>G | ENSP00000454362.1:n.*14C>G | |
| ENST00000564117.1:c.255C>G | ENSP00000457815.1:p.Tyr85Ter | |
| ENST00000565455.5:c.*412C>G | ENSP00000456258.1:n.*412C>G | |
| ENST00000566004.5:c.255C>G | ENSP00000456150.1:p.Tyr85Ter | |
| ENST00000566273.5:c.387C>G | ENSP00000455719.1:p.Tyr129Ter | |
| ENST00000569230.5:c.255C>G | ENSP00000457237.1:p.Tyr85Ter | |
| NM_001286457.1:c.381C>G | NP_001273386.1:p.Tyr127Ter | |
| NM_001286458.1:c.132C>G | NP_001273387.1:p.Tyr44Ter | |
| NM_003470.2:c.429C>G | NP_003461.2:p.Tyr143Ter | |
| NM_001321858.1:c.255C>G | NP_001308787.1:p.Tyr85Ter | |
| NR_135826.1:n.451C>G | ||
| XM_017023652.1:c.429C>G | XP_016879141.1:p.Tyr143Ter | |
| XM_017023653.2:c.381C>G | XP_016879142.1:p.Tyr127Ter | |
| NM_003470.3:c.429C>G MANE Select | NP_003461.2:p.Tyr143Ter | |
| NM_001286457.2:c.381C>G | NP_001273386.2:p.Tyr127Ter | |
| NM_001286458.2:c.132C>G | NP_001273387.1:p.Tyr44Ter | |
| NM_001321858.2:c.255C>G | NP_001308787.1:p.Tyr85Ter | |
| NR_135826.2:n.451C>G |