Linked Data
ClinVar Variation Id:
1800112
ClinVar RCV Id:
RCV002460760
dbSNP Id:
rs782671998
gnomAD v3:
X-154420061-C-T
gnomAD v4:
X-154420061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154420061C>T , CM000685.2:g.154420061C>T | GRCh38 |
| NC_000023.10:g.153648400C>T , CM000685.1:g.153648400C>T | GRCh37 |
| NC_000023.9:g.153301594C>T | NCBI36 |
| NG_009634.1:g.13524C>T | |
| NG_009634.2:g.13527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698234.1:n.1423C>T | ||
| ENST00000698317.1:n.2039C>T | ||
| ENST00000698318.1:n.1822C>T | ||
| ENST00000698319.1:n.1185C>T | ||
| ENST00000698320.1:n.1073C>T | ||
| ENST00000470127.2:n.1086C>T | ||
| ENST00000475699.6:c.577C>T | ENSP00000419854.3:p.Leu193Phe | |
| ENST00000483674.3:n.495C>T | ||
| ENST00000601016.6:c.613C>T MANE Select | ENSP00000469981.1:p.Leu205Phe | |
| ENST00000612012.5:c.571C>T | ENSP00000482070.2:p.Leu191Phe | |
| ENST00000612460.5:c.523C>T | ENSP00000481037.1:p.Leu175Phe | |
| ENST00000614595.2:n.1960C>T | ||
| ENST00000615658.5:n.1202C>T | ||
| ENST00000616020.5:c.625C>T | ENSP00000483636.2:p.Leu209Phe | |
| ENST00000617701.5:c.*626C>T | ENSP00000481645.1:n.*626C>T | |
| ENST00000652354.1:c.295C>T | ENSP00000498734.1:p.Leu99Phe | |
| ENST00000652358.1:c.406C>T | ENSP00000498464.1:p.Leu136Phe | |
| ENST00000652390.1:c.532C>T | ENSP00000498858.1:p.Leu178Phe | |
| ENST00000652476.1:n.1279C>T | ||
| ENST00000652644.1:c.226C>T | ENSP00000498496.1:p.Leu76Phe | |
| ENST00000652682.1:c.670C>T | ENSP00000498288.1:p.Leu224Phe | |
| ENST00000652685.1:n.966C>T | ||
| ENST00000369776.8:c.406C>T | ENSP00000358791.4:p.Leu136Phe | |
| ENST00000426231.5:c.610C>T | ||
| ENST00000439735.2:c.520C>T | ENSP00000398193.1:p.Leu174Phe | |
| ENST00000470127.1:n.192C>T | ||
| ENST00000475699.5:c.571C>T | ENSP00000419854.2:p.Leu191Phe | |
| ENST00000494912.5:n.1302C>T | ||
| ENST00000498029.1:n.71C>T | ||
| ENST00000601016.5:c.613C>T | ENSP00000469981.1:p.Leu205Phe | |
| ENST00000612012.4:c.577C>T | ENSP00000482070.1:p.Leu193Phe | |
| ENST00000612460.4:c.523C>T | ENSP00000481037.1:p.Leu175Phe | |
| ENST00000613002.4:c.481C>T | ENSP00000478154.1:p.Leu161Phe | |
| ENST00000615658.4:n.1302C>T | ||
| ENST00000615986.4:c.*341C>T | ENSP00000480133.1:n.*341C>T | |
| ENST00000620808.4:c.*199C>T | ENSP00000479311.1:n.*199C>T | |
| NM_000116.4:c.613C>T | NP_000107.1:p.Leu205Phe | |
| NM_001303465.1:c.625C>T | NP_001290394.1:p.Leu209Phe | |
| NM_181311.3:c.523C>T | NP_851828.1:p.Leu175Phe | |
| NM_181312.3:c.571C>T | NP_851829.1:p.Leu191Phe | |
| NM_181313.3:c.481C>T | NP_851830.1:p.Leu161Phe | |
| NR_024048.2:n.955C>T | ||
| XM_006724836.1:c.667C>T | XP_006724899.1:p.Leu223Phe | |
| XM_006724837.1:c.535C>T | XP_006724900.1:p.Leu179Phe | |
| XM_006724839.1:c.535C>T | XP_006724902.1:p.Leu179Phe | |
| XM_006724841.2:c.406C>T | XP_006724904.1:p.Leu136Phe | |
| XM_006724842.2:c.316C>T | XP_006724905.1:p.Leu106Phe | |
| XM_011531189.1:c.454C>T | XP_011529491.1:p.Leu152Phe | |
| XM_011531190.1:c.406C>T | XP_011529492.1:p.Leu136Phe | |
| XM_011531191.1:c.337C>T | XP_011529493.1:p.Leu113Phe | |
| XM_011531192.1:c.334C>T | XP_011529494.1:p.Leu112Phe | |
| XR_938511.1:n.961C>T | ||
| XM_006724841.4:c.406C>T | XP_006724904.1:p.Leu136Phe | |
| XM_006724842.4:c.316C>T | XP_006724905.1:p.Leu106Phe | |
| XM_011531191.2:c.337C>T | XP_011529493.1:p.Leu113Phe | |
| XM_017029761.1:c.481C>T | XP_016885250.1:p.Leu161Phe | |
| XM_017029762.1:c.577C>T | XP_016885251.1:p.Leu193Phe | |
| XM_017029763.1:c.400C>T | XP_016885252.1:p.Leu134Phe | |
| XM_017029764.1:c.334C>T | XP_016885253.1:p.Leu112Phe | |
| XM_017029765.2:c.274C>T | XP_016885254.1:p.Leu92Phe | |
| XM_024452431.1:c.454C>T | XP_024308199.1:p.Leu152Phe | |
| NM_000116.5:c.613C>T MANE Select | NP_000107.1:p.Leu205Phe | |
| NM_001303465.2:c.625C>T | NP_001290394.1:p.Leu209Phe | |
| NM_181311.4:c.523C>T | NP_851828.1:p.Leu175Phe | |
| NM_181312.4:c.571C>T | NP_851829.1:p.Leu191Phe | |
| NM_181313.4:c.481C>T | NP_851830.1:p.Leu161Phe | |
| NR_024048.3:n.934C>T |