Linked Data
ClinVar Variation Id:
143167
ClinVar RCV Id:
RCV000132698
RCV000179572
RCV000792250
RCV001002990
RCV001073589
RCV003453098
RCV003453099
dbSNP Id:
rs114342808
ExAC:
1:197390534 C / T
gnomAD v2:
1-197390534-C-T
gnomAD v3:
1-197421404-C-T
gnomAD v4:
1-197421404-C-T
COSMIC:
COSM414721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421404C>T , CM000663.2:g.197421404C>T | GRCh38 |
| NC_000001.10:g.197390534C>T , CM000663.1:g.197390534C>T | GRCh37 |
| NC_000001.9:g.195657157C>T | NCBI36 |
| NG_008483.1:g.158127C>T | |
| NG_008483.2:g.224943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1576C>T MANE Select | ENSP00000356370.3:p.Arg526Ter | |
| ENST00000638467.1:c.1576C>T | ENSP00000491102.1:p.Arg526Ter | |
| ENST00000681519.1:c.457C>T | ENSP00000505267.1:p.Arg153Ter | |
| ENST00000367397.1:c.-282C>T | ENSP00000356367.1:n.-282C>T | |
| ENST00000367399.6:c.1240C>T | ENSP00000356369.2:p.Arg414Ter | |
| ENST00000367400.7:c.1576C>T | ENSP00000356370.3:p.Arg526Ter | |
| ENST00000476483.1:n.536C>T | ||
| ENST00000484075.5:c.1576C>T | ENSP00000433932.1:p.Arg526Ter | |
| ENST00000535699.5:c.1369C>T | ENSP00000438786.1:p.Arg457Ter | |
| ENST00000538660.5:c.1576C>T | ENSP00000438091.1:p.Arg526Ter | |
| NM_001193640.1:c.1240C>T | NP_001180569.1:p.Arg414Ter | |
| NM_001257965.1:c.1369C>T | NP_001244894.1:p.Arg457Ter | |
| NM_001257966.1:c.1576C>T | NP_001244895.1:p.Arg526Ter | |
| NM_201253.2:c.1576C>T | NP_957705.1:p.Arg526Ter | |
| NR_047563.1:n.1785C>T | ||
| NR_047564.1:n.1785C>T | ||
| XM_011509365.1:c.1576C>T | XP_011507667.1:p.Arg526Ter | |
| XM_011509366.1:c.1576C>T | XP_011507668.1:p.Arg526Ter | |
| XM_011509367.1:c.1576C>T | XP_011507669.1:p.Arg526Ter | |
| XM_011509368.1:c.994C>T | XP_011507670.1:p.Arg332Ter | |
| XM_011509369.1:c.19C>T | XP_011507671.1:p.Arg7Ter | |
| XM_011509365.2:c.1576C>T | XP_011507667.1:p.Arg526Ter | |
| XM_011509369.2:c.19C>T | XP_011507671.1:p.Arg7Ter | |
| XM_017000851.1:c.733C>T | XP_016856340.1:p.Arg245Ter | |
| XM_017000852.1:c.1576C>T | XP_016856341.1:p.Arg526Ter | |
| NM_201253.3:c.1576C>T MANE Select | NP_957705.1:p.Arg526Ter | |
| NM_001193640.2:c.1240C>T | NP_001180569.1:p.Arg414Ter | |
| NM_001257965.2:c.1369C>T | NP_001244894.1:p.Arg457Ter | |
| NR_047563.2:n.1737C>T | ||
| NR_047564.2:n.1737C>T | ||
| NM_001257966.2:c.1576C>T | NP_001244895.1:p.Arg526Ter |