Linked Data
ClinVar Variation Id:
2985723
ClinVar RCV Id:
RCV003841330
gnomAD v4:
3-136261966-C-T
MyVariant Identifiers:
chr3:g.135980808C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136261966C>T , CM000665.2:g.136261966C>T | GRCh38 |
| NC_000003.11:g.135980808C>T , CM000665.1:g.135980808C>T | GRCh37 |
| NC_000003.10:g.137463498C>T | NCBI36 |
| NG_008939.1:g.16642C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.444C>T MANE Select | ENSP00000251654.4:p.Ala148= | |
| ENST00000251654.8:c.444C>T | ENSP00000251654.4:p.Ala148= | |
| ENST00000459873.1:c.195C>T | ENSP00000419293.1:p.Ala65= | |
| ENST00000462542.5:c.311C>T | ||
| ENST00000462637.5:c.375C>T | ENSP00000420391.1:p.Ala125= | |
| ENST00000465176.5:n.406C>T | ||
| ENST00000465423.5:c.531C>T | ENSP00000419263.1:p.Ala177= | |
| ENST00000466072.5:c.444C>T | ENSP00000420158.1:p.Ala148= | |
| ENST00000468777.5:c.537C>T | ENSP00000419129.1:p.Ala179= | |
| ENST00000469217.5:c.504C>T | ENSP00000419027.1:p.Ala168= | |
| ENST00000471595.5:c.444C>T | ENSP00000417549.1:p.Ala148= | |
| ENST00000473073.1:n.401C>T | ||
| ENST00000474833.5:n.168+11408C>T | ||
| ENST00000475214.5:n.358C>T | ||
| ENST00000478469.5:c.444C>T | ENSP00000420759.1:p.Ala148= | |
| ENST00000482086.5:c.96C>T | ENSP00000417253.1:p.Ala32= | |
| ENST00000483687.5:c.387C>T | ENSP00000420639.1:p.Ala129= | |
| ENST00000484181.5:c.444C>T | ENSP00000417937.1:p.Ala148= | |
| ENST00000490504.5:c.372+5343C>T | ENSP00000418307.1:n.372+5343C>T | |
| ENST00000494742.5:c.195C>T | ENSP00000418020.1:p.Ala65= | |
| NM_000532.4:c.444C>T | NP_000523.2:p.Ala148= | |
| NM_001178014.1:c.504C>T | NP_001171485.1:p.Ala168= | |
| XM_011512873.1:c.444C>T | XP_011511175.1:p.Ala148= | |
| XM_011512873.2:c.444C>T | XP_011511175.1:p.Ala148= | |
| NM_000532.5:c.444C>T MANE Select | NP_000523.2:p.Ala148= | |
| NM_001178014.2:c.504C>T | NP_001171485.1:p.Ala168= |