Linked Data
ClinVar Variation Id:
2047556
ClinVar RCV Id:
RCV002904394
dbSNP Id:
rs1558405994
gnomAD v4:
1-237784286-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784286T>G , CM000663.2:g.237784286T>G | GRCh38 |
| NC_000001.10:g.237947586T>G , CM000663.1:g.237947586T>G | GRCh37 |
| NC_000001.9:g.236014209T>G | NCBI36 |
| NG_008799.2:g.746885T>G | |
| NG_008799.3:g.747103T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3666T>G | ENSP00000499659.2:n.*3666T>G | |
| ENST00000659194.3:c.12562T>G | ENSP00000499653.3:p.Phe4188Val | |
| ENST00000660292.2:c.12595T>G | ENSP00000499787.2:p.Phe4199Val | |
| ENST00000659194.2:c.4751T>G | ||
| ENST00000366574.7:c.12574T>G MANE Select | ENSP00000355533.2:p.Phe4192Val | |
| ENST00000659194.1:c.4751T>G | ||
| ENST00000660292.1:c.2627T>G | ||
| ENST00000360064.7:c.12526T>G | ENSP00000353174.7:p.Phe4176Val | |
| ENST00000366574.6:c.12574T>G | ENSP00000355533.2:p.Phe4192Val | |
| ENST00000609119.1:n.3769T>G | ||
| NM_001035.2:c.12574T>G | NP_001026.2:p.Phe4192Val | |
| XM_006711802.2:c.12628T>G | XP_006711865.1:p.Phe4210Val | |
| XM_006711803.2:c.12625T>G | XP_006711866.1:p.Phe4209Val | |
| XM_006711804.2:c.12604T>G | XP_006711867.1:p.Phe4202Val | |
| XM_006711805.2:c.12598T>G | XP_006711868.1:p.Phe4200Val | |
| XM_006711806.2:c.12592T>G | XP_006711869.1:p.Phe4198Val | |
| XM_006711807.2:c.12568T>G | XP_006711870.1:p.Phe4190Val | |
| XM_006711808.2:c.12391T>G | XP_006711871.1:p.Phe4131Val | |
| XM_006711810.2:c.12535T>G | XP_006711873.1:p.Phe4179Val | |
| XM_006711802.3:c.12628T>G | XP_006711865.1:p.Phe4210Val | |
| XM_006711803.3:c.12625T>G | XP_006711866.1:p.Phe4209Val | |
| XM_006711804.3:c.12604T>G | XP_006711867.1:p.Phe4202Val | |
| XM_006711805.3:c.12598T>G | XP_006711868.1:p.Phe4200Val | |
| XM_006711806.3:c.12592T>G | XP_006711869.1:p.Phe4198Val | |
| XM_006711807.3:c.12568T>G | XP_006711870.1:p.Phe4190Val | |
| XM_006711808.3:c.12391T>G | XP_006711871.1:p.Phe4131Val | |
| XM_006711810.3:c.12535T>G | XP_006711873.1:p.Phe4179Val | |
| XM_017002028.1:c.12607T>G | XP_016857517.1:p.Phe4203Val | |
| NM_001035.3:c.12574T>G MANE Select | NP_001026.2:p.Phe4192Val |