Linked Data
MyVariant Identifiers:
chr17:g.7359185T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455866T>C , CM000679.2:g.7455866T>C | GRCh38 |
| NC_000017.10:g.7359185T>C , CM000679.1:g.7359185T>C | GRCh37 |
| NC_000017.9:g.7299909T>C | NCBI36 |
| NG_008026.1:g.15780T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306071.7:c.1290T>C MANE Select | ENSP00000304290.2:p.Leu430= | |
| ENST00000306071.6:c.1290T>C | ENSP00000304290.2:p.Leu430= | |
| ENST00000536404.6:c.1074T>C | ENSP00000439209.2:p.Leu358= | |
| ENST00000575379.1:c.-103T>C | ENSP00000461751.1:n.-103T>C | |
| ENST00000576360.1:c.927T>C | ENSP00000459092.1:p.Leu309= | |
| NM_000747.2:c.1290T>C | NP_000738.2:p.Leu430= | |
| NM_000747.3:c.1290T>C MANE Select | NP_000738.2:p.Leu430= |