Linked Data
ClinVar Variation Id:
1484959
ClinVar RCV Id:
RCV002579635
dbSNP Id:
rs999437630
gnomAD v4:
1-237784170-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784170G>C , CM000663.2:g.237784170G>C | GRCh38 |
| NC_000001.10:g.237947470G>C , CM000663.1:g.237947470G>C | GRCh37 |
| NC_000001.9:g.236014093G>C | NCBI36 |
| NG_008799.2:g.746769G>C | |
| NG_008799.3:g.746987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3550G>C | ENSP00000499659.2:n.*3550G>C | |
| ENST00000659194.3:c.12446G>C | ENSP00000499653.3:p.Ser4149Thr | |
| ENST00000660292.2:c.12479G>C | ENSP00000499787.2:p.Ser4160Thr | |
| ENST00000659194.2:c.4635G>C | ||
| ENST00000366574.7:c.12458G>C MANE Select | ENSP00000355533.2:p.Ser4153Thr | |
| ENST00000659194.1:c.4635G>C | ||
| ENST00000660292.1:c.2511G>C | ||
| ENST00000360064.7:c.12410G>C | ENSP00000353174.7:p.Ser4137Thr | |
| ENST00000366574.6:c.12458G>C | ENSP00000355533.2:p.Ser4153Thr | |
| ENST00000609119.1:n.3653G>C | ||
| NM_001035.2:c.12458G>C | NP_001026.2:p.Ser4153Thr | |
| XM_006711802.2:c.12512G>C | XP_006711865.1:p.Ser4171Thr | |
| XM_006711803.2:c.12509G>C | XP_006711866.1:p.Ser4170Thr | |
| XM_006711804.2:c.12488G>C | XP_006711867.1:p.Ser4163Thr | |
| XM_006711805.2:c.12482G>C | XP_006711868.1:p.Ser4161Thr | |
| XM_006711806.2:c.12476G>C | XP_006711869.1:p.Ser4159Thr | |
| XM_006711807.2:c.12452G>C | XP_006711870.1:p.Ser4151Thr | |
| XM_006711808.2:c.12275G>C | XP_006711871.1:p.Ser4092Thr | |
| XM_006711810.2:c.12419G>C | XP_006711873.1:p.Ser4140Thr | |
| XM_006711802.3:c.12512G>C | XP_006711865.1:p.Ser4171Thr | |
| XM_006711803.3:c.12509G>C | XP_006711866.1:p.Ser4170Thr | |
| XM_006711804.3:c.12488G>C | XP_006711867.1:p.Ser4163Thr | |
| XM_006711805.3:c.12482G>C | XP_006711868.1:p.Ser4161Thr | |
| XM_006711806.3:c.12476G>C | XP_006711869.1:p.Ser4159Thr | |
| XM_006711807.3:c.12452G>C | XP_006711870.1:p.Ser4151Thr | |
| XM_006711808.3:c.12275G>C | XP_006711871.1:p.Ser4092Thr | |
| XM_006711810.3:c.12419G>C | XP_006711873.1:p.Ser4140Thr | |
| XM_017002028.1:c.12491G>C | XP_016857517.1:p.Ser4164Thr | |
| NM_001035.3:c.12458G>C MANE Select | NP_001026.2:p.Ser4153Thr |