Linked Data
ClinVar Variation Id:
2099292
ClinVar RCV Id:
RCV003022924
gnomAD v4:
3-136261960-C-T
MyVariant Identifiers:
chr3:g.135980802C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261960C>T , CM000665.2:g.136261960C>T | GRCh38 |
| NC_000003.11:g.135980802C>T , CM000665.1:g.135980802C>T | GRCh37 |
| NC_000003.10:g.137463492C>T | NCBI36 |
| NG_008939.1:g.16636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.438C>T MANE Select | ENSP00000251654.4:p.Asp146= | |
| ENST00000251654.8:c.438C>T | ENSP00000251654.4:p.Asp146= | |
| ENST00000459873.1:c.189C>T | ENSP00000419293.1:p.Asp63= | |
| ENST00000462542.5:c.305C>T | ||
| ENST00000462637.5:c.369C>T | ENSP00000420391.1:p.Asp123= | |
| ENST00000465176.5:n.400C>T | ||
| ENST00000465423.5:c.525C>T | ENSP00000419263.1:p.Asp175= | |
| ENST00000466072.5:c.438C>T | ENSP00000420158.1:p.Asp146= | |
| ENST00000468777.5:c.531C>T | ENSP00000419129.1:p.Asp177= | |
| ENST00000469217.5:c.498C>T | ENSP00000419027.1:p.Asp166= | |
| ENST00000471595.5:c.438C>T | ENSP00000417549.1:p.Asp146= | |
| ENST00000473073.1:n.395C>T | ||
| ENST00000474833.5:n.168+11402C>T | ||
| ENST00000475214.5:n.352C>T | ||
| ENST00000478469.5:c.438C>T | ENSP00000420759.1:p.Asp146= | |
| ENST00000482086.5:c.94-4C>T | ENSP00000417253.1:n.94-4C>T | |
| ENST00000483687.5:c.381C>T | ENSP00000420639.1:p.Asp127= | |
| ENST00000484181.5:c.438C>T | ENSP00000417937.1:p.Asp146= | |
| ENST00000490504.5:c.372+5337C>T | ENSP00000418307.1:n.372+5337C>T | |
| ENST00000494742.5:c.189C>T | ENSP00000418020.1:p.Asp63= | |
| NM_000532.4:c.438C>T | NP_000523.2:p.Asp146= | |
| NM_001178014.1:c.498C>T | NP_001171485.1:p.Asp166= | |
| XM_011512873.1:c.438C>T | XP_011511175.1:p.Asp146= | |
| XM_011512873.2:c.438C>T | XP_011511175.1:p.Asp146= | |
| NM_000532.5:c.438C>T MANE Select | NP_000523.2:p.Asp146= | |
| NM_001178014.2:c.498C>T | NP_001171485.1:p.Asp166= |