Linked Data
ClinVar Variation Id:
404179
dbSNP Id:
rs1060500135
gnomAD v2:
1-237947475-T-A
gnomAD v4:
1-237784175-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784175T>A , CM000663.2:g.237784175T>A | GRCh38 |
| NC_000001.10:g.237947475T>A , CM000663.1:g.237947475T>A | GRCh37 |
| NC_000001.9:g.236014098T>A | NCBI36 |
| NG_008799.2:g.746774T>A | |
| NG_008799.3:g.746992T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3555T>A | ENSP00000499659.2:n.*3555T>A | |
| ENST00000659194.3:c.12451T>A | ENSP00000499653.3:p.Ser4151Thr | |
| ENST00000660292.2:c.12484T>A | ENSP00000499787.2:p.Ser4162Thr | |
| ENST00000659194.2:c.4640T>A | ||
| ENST00000366574.7:c.12463T>A MANE Select | ENSP00000355533.2:p.Ser4155Thr | |
| ENST00000659194.1:c.4640T>A | ||
| ENST00000660292.1:c.2516T>A | ||
| ENST00000360064.7:c.12415T>A | ENSP00000353174.7:p.Ser4139Thr | |
| ENST00000366574.6:c.12463T>A | ENSP00000355533.2:p.Ser4155Thr | |
| ENST00000609119.1:n.3658T>A | ||
| NM_001035.2:c.12463T>A | NP_001026.2:p.Ser4155Thr | |
| XM_006711802.2:c.12517T>A | XP_006711865.1:p.Ser4173Thr | |
| XM_006711803.2:c.12514T>A | XP_006711866.1:p.Ser4172Thr | |
| XM_006711804.2:c.12493T>A | XP_006711867.1:p.Ser4165Thr | |
| XM_006711805.2:c.12487T>A | XP_006711868.1:p.Ser4163Thr | |
| XM_006711806.2:c.12481T>A | XP_006711869.1:p.Ser4161Thr | |
| XM_006711807.2:c.12457T>A | XP_006711870.1:p.Ser4153Thr | |
| XM_006711808.2:c.12280T>A | XP_006711871.1:p.Ser4094Thr | |
| XM_006711810.2:c.12424T>A | XP_006711873.1:p.Ser4142Thr | |
| XM_006711802.3:c.12517T>A | XP_006711865.1:p.Ser4173Thr | |
| XM_006711803.3:c.12514T>A | XP_006711866.1:p.Ser4172Thr | |
| XM_006711804.3:c.12493T>A | XP_006711867.1:p.Ser4165Thr | |
| XM_006711805.3:c.12487T>A | XP_006711868.1:p.Ser4163Thr | |
| XM_006711806.3:c.12481T>A | XP_006711869.1:p.Ser4161Thr | |
| XM_006711807.3:c.12457T>A | XP_006711870.1:p.Ser4153Thr | |
| XM_006711808.3:c.12280T>A | XP_006711871.1:p.Ser4094Thr | |
| XM_006711810.3:c.12424T>A | XP_006711873.1:p.Ser4142Thr | |
| XM_017002028.1:c.12496T>A | XP_016857517.1:p.Ser4166Thr | |
| NM_001035.3:c.12463T>A MANE Select | NP_001026.2:p.Ser4155Thr |