Linked Data
MyVariant Identifiers:
chr3:g.164786891A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069103A>T , CM000665.2:g.165069103A>T | GRCh38 |
| NC_000003.11:g.164786891A>T , CM000665.1:g.164786891A>T | GRCh37 |
| NC_000003.10:g.166269585A>T | NCBI36 |
| NG_017043.1:g.14393T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.348T>A MANE Select | ENSP00000264382.3:p.Val116= | |
| ENST00000264382.7:c.348T>A | ENSP00000264382.3:p.Val116= | |
| ENST00000476593.1:c.*223T>A | ENSP00000419450.1:n.*223T>A | |
| NM_001041.3:c.348T>A | NP_001032.2:p.Val116= | |
| XM_011513078.1:c.249T>A | XP_011511380.1:p.Val83= | |
| XM_011513078.2:c.249T>A | XP_011511380.1:p.Val83= | |
| NM_001041.4:c.348T>A MANE Select | NP_001032.2:p.Val116= |