Linked Data
ClinVar Variation Id:
496088
dbSNP Id:
rs777321777
ExAC:
1:237947501 C / T
gnomAD v2:
1-237947501-C-T
gnomAD v3:
1-237784201-C-T
gnomAD v4:
1-237784201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784201C>T , CM000663.2:g.237784201C>T | GRCh38 |
| NC_000001.10:g.237947501C>T , CM000663.1:g.237947501C>T | GRCh37 |
| NC_000001.9:g.236014124C>T | NCBI36 |
| NG_008799.2:g.746800C>T | |
| NG_008799.3:g.747018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3581C>T | ENSP00000499659.2:n.*3581C>T | |
| ENST00000659194.3:c.12477C>T | ENSP00000499653.3:p.Pro4159= | |
| ENST00000660292.2:c.12510C>T | ENSP00000499787.2:p.Pro4170= | |
| ENST00000659194.2:c.4666C>T | ||
| ENST00000366574.7:c.12489C>T MANE Select | ENSP00000355533.2:p.Pro4163= | |
| ENST00000659194.1:c.4666C>T | ||
| ENST00000660292.1:c.2542C>T | ||
| ENST00000360064.7:c.12441C>T | ENSP00000353174.7:p.Pro4147= | |
| ENST00000366574.6:c.12489C>T | ENSP00000355533.2:p.Pro4163= | |
| ENST00000609119.1:n.3684C>T | ||
| NM_001035.2:c.12489C>T | NP_001026.2:p.Pro4163= | |
| XM_006711802.2:c.12543C>T | XP_006711865.1:p.Pro4181= | |
| XM_006711803.2:c.12540C>T | XP_006711866.1:p.Pro4180= | |
| XM_006711804.2:c.12519C>T | XP_006711867.1:p.Pro4173= | |
| XM_006711805.2:c.12513C>T | XP_006711868.1:p.Pro4171= | |
| XM_006711806.2:c.12507C>T | XP_006711869.1:p.Pro4169= | |
| XM_006711807.2:c.12483C>T | XP_006711870.1:p.Pro4161= | |
| XM_006711808.2:c.12306C>T | XP_006711871.1:p.Pro4102= | |
| XM_006711810.2:c.12450C>T | XP_006711873.1:p.Pro4150= | |
| XM_006711802.3:c.12543C>T | XP_006711865.1:p.Pro4181= | |
| XM_006711803.3:c.12540C>T | XP_006711866.1:p.Pro4180= | |
| XM_006711804.3:c.12519C>T | XP_006711867.1:p.Pro4173= | |
| XM_006711805.3:c.12513C>T | XP_006711868.1:p.Pro4171= | |
| XM_006711806.3:c.12507C>T | XP_006711869.1:p.Pro4169= | |
| XM_006711807.3:c.12483C>T | XP_006711870.1:p.Pro4161= | |
| XM_006711808.3:c.12306C>T | XP_006711871.1:p.Pro4102= | |
| XM_006711810.3:c.12450C>T | XP_006711873.1:p.Pro4150= | |
| XM_017002028.1:c.12522C>T | XP_016857517.1:p.Pro4174= | |
| NM_001035.3:c.12489C>T MANE Select | NP_001026.2:p.Pro4163= |