Linked Data
ClinVar Variation Id:
374917
ClinVar RCV Id:
RCV000415593
dbSNP Id:
rs202001274
ExAC:
15:42107586 C / T
gnomAD v2:
15-42107586-C-T
gnomAD v3:
15-41815388-C-T
gnomAD v4:
15-41815388-C-T
PubMed:
PMID:28089251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41815388C>T , CM000677.2:g.41815388C>T | GRCh38 |
| NC_000015.9:g.42107586C>T , CM000677.1:g.42107586C>T | GRCh37 |
| NC_000015.8:g.39894878C>T | NCBI36 |
| NG_054745.1:g.45955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457542.7:c.1300C>T MANE Select | ENSP00000397570.2:p.Arg434Ter | |
| ENST00000456763.6:c.1318C>T | ENSP00000393099.2:p.Arg440Ter | |
| ENST00000457542.6:c.1300C>T | ENSP00000397570.2:p.Arg434Ter | |
| ENST00000502292.5:n.2256C>T | ||
| ENST00000505061.5:n.1530C>T | ||
| ENST00000505373.5:c.*869-236C>T | ENSP00000421891.1:n.*869-236C>T | |
| ENST00000512970.5:c.*114C>T | ENSP00000427582.1:n.*114C>T | |
| ENST00000514566.5:c.1300C>T | ENSP00000426154.1:p.Arg434Ter | |
| NM_001128608.1:c.1318C>T | NP_001122080.1:p.Arg440Ter | |
| NM_001265611.1:c.1300C>T | NP_001252540.1:p.Arg434Ter | |
| NM_014994.2:c.1300C>T | NP_055809.2:p.Arg434Ter | |
| NR_049761.1:n.1396C>T | ||
| NR_049762.1:n.1365-236C>T | ||
| XM_006720438.1:c.1171-236C>T | XP_006720501.1:n.1171-236C>T | |
| XM_011521382.1:c.1318C>T | XP_011519684.1:p.Arg440Ter | |
| XM_011521383.1:c.1189-236C>T | XP_011519685.1:n.1189-236C>T | |
| XM_011521384.1:c.1318C>T | XP_011519686.1:p.Arg440Ter | |
| XM_011521385.1:c.1318C>T | XP_011519687.1:p.Arg440Ter | |
| XM_006720438.2:c.1171-236C>T | XP_006720501.1:n.1171-236C>T | |
| XM_011521383.2:c.1189-236C>T | XP_011519685.1:n.1189-236C>T | |
| XM_011521384.3:c.1318C>T | XP_011519686.1:p.Arg440Ter | |
| XM_017022017.1:c.1189-236C>T | XP_016877506.1:n.1189-236C>T | |
| XR_001751156.2:n.1566C>T | ||
| XR_001751157.2:n.1566C>T | ||
| XR_001751159.2:n.1566C>T | ||
| NM_014994.3:c.1300C>T MANE Select | NP_055809.2:p.Arg434Ter | |
| NM_001128608.2:c.1318C>T | NP_001122080.1:p.Arg440Ter | |
| NM_001265611.2:c.1300C>T | NP_001252540.1:p.Arg434Ter | |
| NR_049761.2:n.1346C>T | ||
| NR_049762.2:n.1315-236C>T |