Linked Data
ClinVar Variation Id:
16588
ClinVar RCV Id:
RCV000018056
dbSNP Id:
rs121913048
ExAC:
2:128036846 G / A
gnomAD v2:
2-128036846-G-A
gnomAD v4:
2-127279270-G-A
PubMed:
PMID:16947863
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127279270G>A , CM000664.2:g.127279270G>A | GRCh38 |
| NC_000002.11:g.128036846G>A , CM000664.1:g.128036846G>A | GRCh37 |
| NC_000002.10:g.127753316G>A | NCBI36 |
| NG_007454.1:g.19907C>T , LRG_462:g.19907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.1633C>T MANE Select | ENSP00000285398.2:p.Gln545Ter | |
| ENST00000644317.1:c.*1122C>T | ENSP00000494012.1:n.*1122C>T | |
| ENST00000645233.1:c.*1845C>T | ENSP00000494116.1:n.*1845C>T | |
| ENST00000645467.1:c.*405C>T | ENSP00000494889.1:n.*405C>T | |
| ENST00000645504.1:c.386C>T | ||
| ENST00000645736.1:c.1304C>T | ENSP00000494545.1:n.1304C>T | |
| ENST00000646042.1:n.2368C>T | ||
| ENST00000646654.1:c.*1100C>T | ENSP00000494526.1:n.*1100C>T | |
| ENST00000647169.1:c.1708C>T | ENSP00000495619.1:p.Gln570Ter | |
| ENST00000647496.1:c.395+10067C>T | ||
| ENST00000285398.6:c.1633C>T | ENSP00000285398.2:p.Gln545Ter | |
| ENST00000426778.5:c.*1614C>T | ENSP00000415335.1:n.*1614C>T | |
| ENST00000445889.5:c.*1676C>T | ENSP00000390888.1:n.*1676C>T | |
| NM_000122.1:c.1633C>T , LRG_462t1:c.1633C>T | NP_000113.1:p.Gln545Ter | |
| NM_001303416.1:c.1441C>T | NP_001290345.1:p.Gln481Ter | |
| NM_001303418.1:c.1441C>T | NP_001290347.1:p.Gln481Ter | |
| XM_011510794.1:c.1651C>T | XP_011509096.1:p.Gln551Ter | |
| XM_011510795.1:c.1195C>T | XP_011509097.1:p.Gln399Ter | |
| XM_011510794.2:c.1651C>T | XP_011509096.1:p.Gln551Ter | |
| XM_017003583.1:c.1177C>T | XP_016859072.1:p.Gln393Ter | |
| NM_000122.2:c.1633C>T MANE Select | NP_000113.1:p.Gln545Ter | |
| NM_001303416.2:c.1441C>T | NP_001290345.1:p.Gln481Ter | |
| NM_001303418.2:c.1441C>T | NP_001290347.1:p.Gln481Ter |