Linked Data
ClinVar Variation Id:
2006909
ClinVar RCV Id:
RCV002837990
dbSNP Id:
rs1695359991
gnomAD v4:
1-237784180-C-T
MyVariant Identifiers:
chr1:g.237947480C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784180C>T , CM000663.2:g.237784180C>T | GRCh38 |
| NC_000001.10:g.237947480C>T , CM000663.1:g.237947480C>T | GRCh37 |
| NC_000001.9:g.236014103C>T | NCBI36 |
| NG_008799.2:g.746779C>T | |
| NG_008799.3:g.746997C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3560C>T | ENSP00000499659.2:n.*3560C>T | |
| ENST00000659194.3:c.12456C>T | ENSP00000499653.3:p.Ser4152= | |
| ENST00000660292.2:c.12489C>T | ENSP00000499787.2:p.Ser4163= | |
| ENST00000659194.2:c.4645C>T | ||
| ENST00000366574.7:c.12468C>T MANE Select | ENSP00000355533.2:p.Ser4156= | |
| ENST00000659194.1:c.4645C>T | ||
| ENST00000660292.1:c.2521C>T | ||
| ENST00000360064.7:c.12420C>T | ENSP00000353174.7:p.Ser4140= | |
| ENST00000366574.6:c.12468C>T | ENSP00000355533.2:p.Ser4156= | |
| ENST00000609119.1:n.3663C>T | ||
| NM_001035.2:c.12468C>T | NP_001026.2:p.Ser4156= | |
| XM_006711802.2:c.12522C>T | XP_006711865.1:p.Ser4174= | |
| XM_006711803.2:c.12519C>T | XP_006711866.1:p.Ser4173= | |
| XM_006711804.2:c.12498C>T | XP_006711867.1:p.Ser4166= | |
| XM_006711805.2:c.12492C>T | XP_006711868.1:p.Ser4164= | |
| XM_006711806.2:c.12486C>T | XP_006711869.1:p.Ser4162= | |
| XM_006711807.2:c.12462C>T | XP_006711870.1:p.Ser4154= | |
| XM_006711808.2:c.12285C>T | XP_006711871.1:p.Ser4095= | |
| XM_006711810.2:c.12429C>T | XP_006711873.1:p.Ser4143= | |
| XM_006711802.3:c.12522C>T | XP_006711865.1:p.Ser4174= | |
| XM_006711803.3:c.12519C>T | XP_006711866.1:p.Ser4173= | |
| XM_006711804.3:c.12498C>T | XP_006711867.1:p.Ser4166= | |
| XM_006711805.3:c.12492C>T | XP_006711868.1:p.Ser4164= | |
| XM_006711806.3:c.12486C>T | XP_006711869.1:p.Ser4162= | |
| XM_006711807.3:c.12462C>T | XP_006711870.1:p.Ser4154= | |
| XM_006711808.3:c.12285C>T | XP_006711871.1:p.Ser4095= | |
| XM_006711810.3:c.12429C>T | XP_006711873.1:p.Ser4143= | |
| XM_017002028.1:c.12501C>T | XP_016857517.1:p.Ser4167= | |
| NM_001035.3:c.12468C>T MANE Select | NP_001026.2:p.Ser4156= |