Linked Data
ClinVar Variation Id:
526381
ClinVar RCV Id:
RCV000630904
RCV000677277
RCV000722040
RCV001250442
RCV001531186
RCV001797115
RCV001821777
RCV002245059
dbSNP Id:
rs144567652
ExAC:
14:45667921 C / T
gnomAD v2:
14-45667921-C-T
gnomAD v3:
14-45198718-C-T
gnomAD v4:
14-45198718-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45198718C>T , CM000676.2:g.45198718C>T | GRCh38 |
| NC_000014.8:g.45667921C>T , CM000676.1:g.45667921C>T | GRCh37 |
| NC_000014.7:g.44737671C>T | NCBI36 |
| NG_007417.1:g.67786C>T , LRG_502:g.67786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553551.2:n.1991C>T | ||
| ENST00000554809.6:c.4108C>T | ENSP00000450632.2:p.Arg1370Ter | |
| ENST00000555484.2:c.1569C>T | ||
| ENST00000556250.6:c.5584C>T | ENSP00000452033.2:p.Arg1862Ter | |
| ENST00000557110.2:c.1495-14C>T | ||
| ENST00000696645.1:n.1681C>T | ||
| ENST00000696647.1:c.*24C>T | ENSP00000512778.1:n.*24C>T | |
| ENST00000696648.1:c.*3816C>T | ENSP00000512779.1:n.*3816C>T | |
| ENST00000696649.1:c.5635C>T | ENSP00000512780.1:p.Arg1879Ter | |
| ENST00000696651.1:n.2231C>T | ||
| ENST00000696659.1:c.3413C>T | ||
| ENST00000696663.1:c.4722C>T | ||
| ENST00000696664.1:c.4623C>T | ||
| ENST00000696665.1:c.1495-1152C>T | ||
| ENST00000696675.1:c.*1547C>T | ENSP00000512799.1:n.*1547C>T | |
| ENST00000696683.1:c.4419C>T | ||
| ENST00000696684.1:c.4158-1152C>T | ||
| ENST00000696685.1:c.4609C>T | ||
| ENST00000696686.1:n.2528C>T | ||
| ENST00000267430.10:c.5791C>T MANE Select | ENSP00000267430.5:p.Arg1931Ter | |
| ENST00000267430.9:c.5791C>T | ENSP00000267430.5:p.Arg1931Ter | |
| ENST00000542564.6:c.5713C>T | ENSP00000442493.2:p.Arg1905Ter | |
| ENST00000553551.1:n.284C>T | ||
| ENST00000554809.5:c.2693C>T | ||
| ENST00000555484.1:c.169C>T | ENSP00000450797.1:p.Arg57Ter | |
| ENST00000556250.5:c.4339C>T | ENSP00000452033.1:p.Arg1447Ter | |
| ENST00000557110.1:c.377-14C>T | ENSP00000451846.1:n.377-14C>T | |
| NM_001308133.1:c.5713C>T | NP_001295062.1:p.Arg1905Ter | |
| NM_020937.2:c.5791C>T , LRG_502t1:c.5791C>T | NP_065988.1:p.Arg1931Ter | |
| NM_020937.3:c.5791C>T | NP_065988.1:p.Arg1931Ter | |
| XM_011537034.1:c.5806C>T | XP_011535336.1:p.Arg1936Ter | |
| XM_011537035.1:c.5728C>T | XP_011535337.1:p.Arg1910Ter | |
| XM_011537036.1:c.*24C>T | XP_011535338.1:n.*24C>T | |
| XM_011537037.1:c.3820C>T | XP_011535339.1:p.Arg1274Ter | |
| XM_011537034.2:c.5806C>T | XP_011535336.1:p.Arg1936Ter | |
| XM_011537035.3:c.5728C>T | XP_011535337.1:p.Arg1910Ter | |
| XM_011537037.3:c.3820C>T | XP_011535339.1:p.Arg1274Ter | |
| XM_017021523.1:c.5356-1152C>T | XP_016877012.1:n.5356-1152C>T | |
| XM_017021524.2:c.4843C>T | XP_016877013.1:p.Arg1615Ter | |
| XM_017021525.2:c.4621C>T | XP_016877014.1:p.Arg1541Ter | |
| XM_017021526.2:c.4621C>T | XP_016877015.1:p.Arg1541Ter | |
| XM_017021527.1:c.4606C>T | XP_016877016.1:p.Arg1536Ter | |
| XR_001750470.1:n.5522C>T | ||
| XR_001750471.2:n.5507C>T | ||
| NM_020937.4:c.5791C>T MANE Select | NP_065988.1:p.Arg1931Ter | |
| NM_001308133.2:c.5713C>T | NP_001295062.1:p.Arg1905Ter |