Linked Data
ClinVar Variation Id:
4467
ClinVar RCV Id:
RCV000004722
RCV000004723
RCV000004724
RCV000023527
RCV001723536
RCV002490312
RCV003488326
dbSNP Id:
rs8177374
ExAC:
11:126162843 C / T
gnomAD v2:
11-126162843-C-T
gnomAD v3:
11-126292948-C-T
gnomAD v4:
11-126292948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126292948C>T , CM000673.2:g.126292948C>T | GRCh38 |
| NC_000011.9:g.126162843C>T , CM000673.1:g.126162843C>T | GRCh37 |
| NC_000011.8:g.125668053C>T | NCBI36 |
| NG_011523.1:g.14862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479770.2:c.539C>T | ENSP00000436967.1:p.Ser180Leu | |
| ENST00000700488.1:c.539C>T | ENSP00000515016.1:p.Ser180Leu | |
| ENST00000700489.1:c.539C>T | ENSP00000515017.1:p.Ser180Leu | |
| ENST00000700490.1:c.539C>T | ENSP00000515018.1:p.Ser180Leu | |
| ENST00000700491.1:c.539C>T | ENSP00000515019.1:p.Ser180Leu | |
| ENST00000700492.1:c.539C>T | ENSP00000515021.1:p.Ser180Leu | |
| ENST00000700493.1:n.2184C>T | ||
| ENST00000700494.1:n.1794C>T | ||
| ENST00000700495.1:c.68-720C>T | ENSP00000515022.1:n.68-720C>T | |
| ENST00000700496.1:n.614C>T | ||
| ENST00000392679.6:c.539C>T MANE Select | ENSP00000376446.1:p.Ser180Leu | |
| ENST00000392678.7:c.539C>T | ENSP00000376445.3:p.Ser180Leu | |
| ENST00000392679.5:c.539C>T | ENSP00000376446.1:p.Ser180Leu | |
| ENST00000392680.6:c.539C>T | ENSP00000376447.2:p.Ser180Leu | |
| ENST00000479770.1:c.539C>T | ENSP00000436967.1:p.Ser180Leu | |
| NM_001039661.1:c.539C>T | NP_001034750.1:p.Ser180Leu | |
| NM_148910.2:c.539C>T | NP_683708.1:p.Ser180Leu | |
| XM_005271399.2:c.866C>T | XP_005271456.1:p.Ser289Leu | |
| XM_011542576.1:c.539C>T | XP_011540878.1:p.Ser180Leu | |
| XM_011542577.1:c.707C>T | XP_011540879.1:p.Ser236Leu | |
| XM_011542578.1:c.539C>T | XP_011540880.1:p.Ser180Leu | |
| XM_011542579.1:c.539C>T | XP_011540881.1:p.Ser180Leu | |
| XM_011542580.1:c.539C>T | XP_011540882.1:p.Ser180Leu | |
| XM_011542581.1:c.539C>T | XP_011540883.1:p.Ser180Leu | |
| XM_011542582.1:c.539C>T | XP_011540884.1:p.Ser180Leu | |
| NM_001318776.1:c.539C>T | NP_001305705.1:p.Ser180Leu | |
| NM_001318777.1:c.539C>T | NP_001305706.1:p.Ser180Leu | |
| NM_001039661.2:c.539C>T | NP_001034750.1:p.Ser180Leu | |
| NM_001318776.2:c.539C>T | NP_001305705.1:p.Ser180Leu | |
| NM_001318777.2:c.539C>T MANE Select | NP_001305706.1:p.Ser180Leu | |
| NM_148910.3:c.539C>T | NP_683708.1:p.Ser180Leu |