Linked Data
ClinVar Variation Id:
436161
dbSNP Id:
rs767690925
ExAC:
9:36846913 G / A
gnomAD v2:
9-36846913-G-A
gnomAD v3:
9-36846916-G-A
gnomAD v4:
9-36846916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36846916G>A , CM000671.2:g.36846916G>A | GRCh38 |
| NC_000009.11:g.36846913G>A , CM000671.1:g.36846913G>A | GRCh37 |
| NC_000009.10:g.36836913G>A | NCBI36 |
| NG_033894.1:g.192564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358127.9:c.1026C>T MANE Select | ENSP00000350844.4:p.Ser342= | |
| ENST00000377852.7:c.924C>T | ENSP00000367083.2:p.Ser308= | |
| ENST00000520154.6:c.781-6280C>T | ENSP00000429291.1:n.781-6280C>T | |
| ENST00000523241.6:c.794C>T | ENSP00000429637.1:p.Pro265Leu | |
| ENST00000651550.1:c.702C>T | ENSP00000498443.1:p.Ser234= | |
| ENST00000358127.8:c.1026C>T | ENSP00000350844.4:p.Ser342= | |
| ENST00000377840.6:c.*29C>T | ENSP00000367071.2:n.*29C>T | |
| ENST00000377847.6:c.911-6280C>T | ENSP00000367078.2:n.911-6280C>T | |
| ENST00000377852.6:c.924C>T | ENSP00000367083.2:p.Ser308= | |
| ENST00000377853.6:c.1013-6280C>T | ENSP00000367084.2:n.1013-6280C>T | |
| ENST00000414447.5:c.897C>T | ENSP00000412188.1:p.Ser299= | |
| ENST00000446742.5:c.726C>T | ENSP00000404687.1:p.Ser242= | |
| ENST00000520154.5:c.781-6280C>T | ENSP00000429291.1:n.781-6280C>T | |
| ENST00000520281.5:c.884-6280C>T | ENSP00000430773.1:n.884-6280C>T | |
| ENST00000522003.5:c.702C>T | ENSP00000429359.1:p.Ser234= | |
| ENST00000522932.1:c.106-6280C>T | ||
| ENST00000523145.5:c.587-6280C>T | ENSP00000429197.1:n.587-6280C>T | |
| ENST00000523241.5:c.794C>T | ENSP00000429637.1:p.Pro265Leu | |
| ENST00000523493.5:c.953C>T | ENSP00000431038.1:n.953C>T | |
| ENST00000524340.5:c.507C>T | ENSP00000429404.1:p.Ser169= | |
| NM_001280547.1:c.924C>T | NP_001267476.1:p.Ser308= | |
| NM_001280548.1:c.1013-6280C>T | NP_001267477.1:n.1013-6280C>T | |
| NM_001280549.1:c.794C>T | NP_001267478.1:p.Pro265Leu | |
| NM_001280550.1:c.781-6280C>T | NP_001267479.1:n.781-6280C>T | |
| NM_001280551.1:c.587-6280C>T | NP_001267480.1:n.587-6280C>T | |
| NM_001280552.1:c.911-6280C>T | NP_001267481.1:n.911-6280C>T | |
| NM_001280553.1:c.884-6280C>T | NP_001267482.1:n.884-6280C>T | |
| NM_001280554.1:c.897C>T | NP_001267483.1:p.Ser299= | |
| NM_001280555.1:c.726C>T | NP_001267484.1:p.Ser242= | |
| NM_001280556.1:c.702C>T | NP_001267485.1:p.Ser234= | |
| NM_016734.2:c.1026C>T | NP_057953.1:p.Ser342= | |
| NR_103999.1:n.1344C>T | ||
| NR_104000.1:n.1401C>T | ||
| XM_005251481.3:c.1023C>T | XP_005251538.1:p.Ser341= | |
| XM_011517896.1:c.1083C>T | XP_011516198.1:p.Ser361= | |
| XM_011517897.1:c.1080C>T | XP_011516199.1:p.Ser360= | |
| NM_016734.3:c.1026C>T MANE Select | NP_057953.1:p.Ser342= | |
| NM_001280547.2:c.924C>T | NP_001267476.1:p.Ser308= | |
| NM_001280548.2:c.1013-6280C>T | NP_001267477.1:n.1013-6280C>T | |
| NM_001280549.2:c.794C>T | NP_001267478.1:p.Pro265Leu | |
| NM_001280550.2:c.781-6280C>T | NP_001267479.1:n.781-6280C>T | |
| NM_001280551.2:c.587-6280C>T | NP_001267480.1:n.587-6280C>T | |
| NM_001280552.2:c.911-6280C>T | NP_001267481.1:n.911-6280C>T | |
| NM_001280553.2:c.884-6280C>T | NP_001267482.1:n.884-6280C>T | |
| NM_001280554.2:c.897C>T | NP_001267483.1:p.Ser299= | |
| NM_001280555.2:c.726C>T | NP_001267484.1:p.Ser242= | |
| NM_001280556.2:c.702C>T | NP_001267485.1:p.Ser234= | |
| NR_103999.2:n.1133C>T | ||
| NR_104000.2:n.1190C>T |