Linked Data
ClinVar Variation Id:
374916
ClinVar RCV Id:
RCV000415560
dbSNP Id:
rs1057519304
gnomAD v2:
15-42117482-C-T
gnomAD v3:
15-41825284-C-T
gnomAD v4:
15-41825284-C-T
PubMed:
PMID:28089251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41825284C>T , CM000677.2:g.41825284C>T | GRCh38 |
| NC_000015.9:g.42117482C>T , CM000677.1:g.42117482C>T | GRCh37 |
| NC_000015.8:g.39904774C>T | NCBI36 |
| NG_029927.1:g.2200C>T | |
| NG_054745.1:g.55851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457542.7:c.4375C>T MANE Select | ENSP00000397570.2:p.Arg1459Ter | |
| ENST00000456763.6:c.4393C>T | ENSP00000393099.2:p.Arg1465Ter | |
| ENST00000457542.6:c.4375C>T | ENSP00000397570.2:p.Arg1459Ter | |
| ENST00000505061.5:n.5038C>T | ||
| ENST00000505373.5:c.*3926C>T | ENSP00000421891.1:n.*3926C>T | |
| ENST00000512970.5:c.*3189C>T | ENSP00000427582.1:n.*3189C>T | |
| ENST00000514566.5:c.3544C>T | ENSP00000426154.1:p.Arg1182Ter | |
| NM_001128608.1:c.4393C>T | NP_001122080.1:p.Arg1465Ter | |
| NM_001265611.1:c.3544C>T | NP_001252540.1:p.Arg1182Ter | |
| NM_014994.2:c.4375C>T | NP_055809.2:p.Arg1459Ter | |
| NR_049761.1:n.4471C>T | ||
| NR_049762.1:n.4422C>T | ||
| XM_006720438.1:c.4228C>T | XP_006720501.1:p.Arg1410Ter | |
| XM_006720439.2:c.2644C>T | XP_006720502.1:p.Arg882Ter | |
| XM_011521382.1:c.4393C>T | XP_011519684.1:p.Arg1465Ter | |
| XM_011521383.1:c.4246C>T | XP_011519685.1:p.Arg1416Ter | |
| XM_006720438.2:c.4228C>T | XP_006720501.1:p.Arg1410Ter | |
| XM_011521383.2:c.4246C>T | XP_011519685.1:p.Arg1416Ter | |
| XM_017022017.1:c.4246C>T | XP_016877506.1:p.Arg1416Ter | |
| XR_001751156.2:n.4627C>T | ||
| XR_001751157.2:n.4934C>T | ||
| XR_001751159.2:n.5072C>T | ||
| NM_014994.3:c.4375C>T MANE Select | NP_055809.2:p.Arg1459Ter | |
| NM_001128608.2:c.4393C>T | NP_001122080.1:p.Arg1465Ter | |
| NM_001265611.2:c.3544C>T | NP_001252540.1:p.Arg1182Ter | |
| NR_049761.2:n.4421C>T | ||
| NR_049762.2:n.4372C>T |