Linked Data
ClinVar Variation Id:
95521
dbSNP Id:
rs17883456
ExAC:
12:124241506 C / T
gnomAD v2:
12-124241506-C-T
gnomAD v3:
12-123756959-C-T
gnomAD v4:
12-123756959-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123756959C>T , CM000674.2:g.123756959C>T | GRCh38 |
| NC_000012.11:g.124241506C>T , CM000674.1:g.124241506C>T | GRCh37 |
| NC_000012.10:g.122807459C>T | NCBI36 |
| NG_012743.1:g.49642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2438C>T MANE Select | ENSP00000332247.2:p.Ala813Val | |
| ENST00000675344.1:c.*1459C>T | ENSP00000501953.1:n.*1459C>T | |
| ENST00000330342.7:c.2438C>T | ENSP00000332247.2:p.Ala813Val | |
| ENST00000534943.5:c.278C>T | ENSP00000443726.1:p.Ala93Val | |
| ENST00000543687.1:n.633C>T | ||
| ENST00000544833.1:c.284C>T | ENSP00000441143.1:p.Ala95Val | |
| NM_012463.3:c.2438C>T | NP_036595.2:p.Ala813Val | |
| XM_005253563.1:c.2318C>T | XP_005253620.1:p.Ala773Val | |
| XM_006719317.2:c.1925C>T | XP_006719380.1:p.Ala642Val | |
| XM_006719318.2:c.1616C>T | XP_006719381.1:p.Ala539Val | |
| XR_429088.1:n.2601C>T | ||
| XM_024448910.1:c.2318C>T | XP_024304678.1:p.Ala773Val | |
| XM_024448911.1:c.1925C>T | XP_024304679.1:p.Ala642Val | |
| XM_024448912.1:c.1616C>T | XP_024304680.1:p.Ala539Val | |
| NM_012463.4:c.2438C>T MANE Select | NP_036595.2:p.Ala813Val |