Linked Data
MyVariant Identifiers:
chr3:g.190126104T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408315T>C , CM000665.2:g.190408315T>C | GRCh38 |
| NC_000003.11:g.190126104T>C , CM000665.1:g.190126104T>C | GRCh37 |
| NC_000003.10:g.191608798T>C | NCBI36 |
| NG_008149.1:g.25264T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.384T>C MANE Select | ENSP00000264734.3:p.Gly128= | |
| ENST00000456423.2:c.115-1588T>C | ENSP00000414136.2:n.115-1588T>C | |
| ENST00000264734.2:c.594T>C | ENSP00000264734.2:p.Gly198= | |
| ENST00000456423.1:c.325-1588T>C | ENSP00000414136.1:n.325-1588T>C | |
| NM_006580.3:c.594T>C | NP_006571.1:p.Gly198= | |
| NM_001378492.1:c.384T>C | NP_001365421.1:p.Gly128= | |
| NM_001378493.1:c.384T>C | NP_001365422.1:p.Gly128= | |
| NM_006580.4:c.384T>C MANE Select | NP_006571.2:p.Gly128= |