Linked Data
ClinVar Variation Id:
161625
ClinVar RCV Id:
RCV000149161
dbSNP Id:
rs193921085
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.178473216G>T , CM000663.2:g.178473216G>T | GRCh38 |
| NC_000001.10:g.178442351G>T , CM000663.1:g.178442351G>T | GRCh37 |
| NC_000001.9:g.176708974G>T | NCBI36 |
| NG_047109.1:g.384488G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696605.1:c.4228G>T | ENSP00000512749.1:p.Glu1410Ter | |
| ENST00000696607.1:c.3416G>T | ENSP00000512751.1:p.Ter1139Leu | |
| ENST00000367649.8:c.3820G>T MANE Select | ENSP00000356621.3:p.Glu1274Ter | |
| ENST00000367649.7:c.3820G>T | ENSP00000356621.3:p.Glu1274Ter | |
| ENST00000433130.2:c.2079G>T | ||
| ENST00000462775.5:c.3397G>T | ENSP00000420558.1:p.Glu1133Ter | |
| NM_004841.3:c.3397G>T | NP_004832.1:p.Glu1133Ter | |
| NM_170692.2:c.3820G>T | NP_733793.2:p.Glu1274Ter | |
| XM_005245622.2:c.3428G>T | XP_005245679.1:p.Ter1143Leu | |
| XM_011510166.1:c.3872G>T | XP_011508468.1:p.Ter1291Leu | |
| XM_011510167.1:c.3841G>T | XP_011508469.1:p.Glu1281Ter | |
| XM_011510168.1:c.3851G>T | XP_011508470.1:p.Ter1284Leu | |
| XM_011510169.1:c.3698G>T | XP_011508471.1:p.Ter1233Leu | |
| XM_005245622.4:c.3428G>T | XP_005245679.1:p.Ter1143Leu | |
| XM_011510166.2:c.3872G>T | XP_011508468.1:p.Ter1291Leu | |
| XM_011510167.2:c.3841G>T | XP_011508469.1:p.Glu1281Ter | |
| XM_017002849.1:c.4259G>T | XP_016858338.1:p.Ter1420Leu | |
| XM_017002850.1:c.4228G>T | XP_016858339.1:p.Glu1410Ter | |
| XM_017002851.1:c.4238G>T | XP_016858340.1:p.Ter1413Leu | |
| XM_017002852.1:c.4207G>T | XP_016858341.1:p.Glu1403Ter | |
| XM_017002853.1:c.3704G>T | XP_016858342.1:p.Ter1235Leu | |
| XM_017002854.1:c.3437G>T | XP_016858343.1:p.Ter1146Leu | |
| XM_017002855.1:c.3416G>T | XP_016858344.1:p.Ter1139Leu | |
| NM_004841.5:c.3397G>T | NP_004832.1:p.Glu1133Ter | |
| NM_170692.4:c.3820G>T MANE Select | NP_733793.2:p.Glu1274Ter |