Linked Data
ClinVar Variation Id:
2188183
dbSNP Id:
rs1450929982
gnomAD v2:
1-237947546-C-T
gnomAD v3:
1-237784246-C-T
gnomAD v4:
1-237784246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784246C>T , CM000663.2:g.237784246C>T | GRCh38 |
| NC_000001.10:g.237947546C>T , CM000663.1:g.237947546C>T | GRCh37 |
| NC_000001.9:g.236014169C>T | NCBI36 |
| NG_008799.2:g.746845C>T | |
| NG_008799.3:g.747063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3626C>T | ENSP00000499659.2:n.*3626C>T | |
| ENST00000659194.3:c.12522C>T | ENSP00000499653.3:p.Asn4174= | |
| ENST00000660292.2:c.12555C>T | ENSP00000499787.2:p.Asn4185= | |
| ENST00000659194.2:c.4711C>T | ||
| ENST00000366574.7:c.12534C>T MANE Select | ENSP00000355533.2:p.Asn4178= | |
| ENST00000659194.1:c.4711C>T | ||
| ENST00000660292.1:c.2587C>T | ||
| ENST00000360064.7:c.12486C>T | ENSP00000353174.7:p.Asn4162= | |
| ENST00000366574.6:c.12534C>T | ENSP00000355533.2:p.Asn4178= | |
| ENST00000609119.1:n.3729C>T | ||
| NM_001035.2:c.12534C>T | NP_001026.2:p.Asn4178= | |
| XM_006711802.2:c.12588C>T | XP_006711865.1:p.Asn4196= | |
| XM_006711803.2:c.12585C>T | XP_006711866.1:p.Asn4195= | |
| XM_006711804.2:c.12564C>T | XP_006711867.1:p.Asn4188= | |
| XM_006711805.2:c.12558C>T | XP_006711868.1:p.Asn4186= | |
| XM_006711806.2:c.12552C>T | XP_006711869.1:p.Asn4184= | |
| XM_006711807.2:c.12528C>T | XP_006711870.1:p.Asn4176= | |
| XM_006711808.2:c.12351C>T | XP_006711871.1:p.Asn4117= | |
| XM_006711810.2:c.12495C>T | XP_006711873.1:p.Asn4165= | |
| XM_006711802.3:c.12588C>T | XP_006711865.1:p.Asn4196= | |
| XM_006711803.3:c.12585C>T | XP_006711866.1:p.Asn4195= | |
| XM_006711804.3:c.12564C>T | XP_006711867.1:p.Asn4188= | |
| XM_006711805.3:c.12558C>T | XP_006711868.1:p.Asn4186= | |
| XM_006711806.3:c.12552C>T | XP_006711869.1:p.Asn4184= | |
| XM_006711807.3:c.12528C>T | XP_006711870.1:p.Asn4176= | |
| XM_006711808.3:c.12351C>T | XP_006711871.1:p.Asn4117= | |
| XM_006711810.3:c.12495C>T | XP_006711873.1:p.Asn4165= | |
| XM_017002028.1:c.12567C>T | XP_016857517.1:p.Asn4189= | |
| NM_001035.3:c.12534C>T MANE Select | NP_001026.2:p.Asn4178= |