Linked Data
MyVariant Identifiers:
chr12:g.5021660T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912494T>A , CM000674.2:g.4912494T>A | GRCh38 |
| NC_000012.11:g.5021660T>A , CM000674.1:g.5021660T>A | GRCh37 |
| NC_000012.10:g.4891921T>A | NCBI36 |
| NG_011815.1:g.7588T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.1116T>A MANE Select | ENSP00000371985.3:p.Thr372= | |
| ENST00000543874.3:n.105+2022T>A | ||
| ENST00000639306.1:c.954T>A | ENSP00000492506.1:p.Thr318= | |
| ENST00000639680.1:c.76+228T>A | ||
| ENST00000382545.3:c.1116T>A | ENSP00000371985.3:p.Thr372= | |
| ENST00000541095.1:n.105+2022T>A | ||
| ENST00000543874.2:n.96+2022T>A | ||
| NM_000217.2:c.1116T>A | NP_000208.2:p.Thr372= | |
| NM_000217.3:c.1116T>A MANE Select | NP_000208.2:p.Thr372= |