Linked Data
ClinVar Variation Id:
375606
ClinVar RCV Id:
RCV000417078
dbSNP Id:
rs1057519589
PubMed:
PMID:22934317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219927981G>A , CM000663.2:g.219927981G>A | GRCh38 |
| NC_000001.10:g.220101323G>A , CM000663.1:g.220101323G>A | GRCh37 |
| NC_000001.9:g.218167946G>A | NCBI36 |
| NG_032153.1:g.5671C>T | |
| NG_032153.2:g.5671C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696608.1:c.452-876C>T | ENSP00000512752.1:n.452-876C>T | |
| ENST00000366926.4:c.460C>T MANE Select | ENSP00000355893.4:p.Gln154Ter | |
| ENST00000356609.2:c.460C>T | ENSP00000349018.2:p.Gln154Ter | |
| ENST00000366926.3:c.460C>T | ENSP00000355893.3:p.Gln154Ter | |
| ENST00000484239.5:n.81-876C>T | ||
| NM_018713.2:c.460C>T | NP_061183.2:p.Gln154Ter | |
| NR_046437.1:n.671C>T | ||
| XM_006711437.2:c.452-876C>T | XP_006711500.2:n.452-876C>T | |
| XM_011509727.1:c.-36+308C>T | XP_011508029.1:n.-36+308C>T | |
| XM_006711437.4:c.452-876C>T | XP_006711500.2:n.452-876C>T | |
| NM_001376929.1:c.452-876C>T | NP_001363858.1:n.452-876C>T | |
| NM_018713.3:c.460C>T MANE Select | NP_061183.2:p.Gln154Ter | |
| NR_046437.2:n.577C>T |