Linked Data
MyVariant Identifiers:
chr3:g.147131258T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413471T>C , CM000665.2:g.147413471T>C | GRCh38 |
| NC_000003.11:g.147131258T>C , CM000665.1:g.147131258T>C | GRCh37 |
| NC_000003.10:g.148613948T>C | NCBI36 |
| NG_015886.1:g.9078T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1264T>C MANE Select | ENSP00000282928.4:p.Leu422= | |
| ENST00000282928.4:c.1264T>C | ENSP00000282928.4:p.Leu422= | |
| ENST00000472523.1:n.521+19529T>C | ||
| ENST00000488404.5:c.330T>C | ||
| NM_003412.3:c.1264T>C | NP_003403.2:p.Leu422= | |
| NM_003412.4:c.1264T>C MANE Select | NP_003403.2:p.Leu422= |