Linked Data
MyVariant Identifiers:
chr12:g.53069190G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675406G>T , CM000674.2:g.52675406G>T | GRCh38 |
| NC_000012.11:g.53069190G>T , CM000674.1:g.53069190G>T | GRCh37 |
| NC_000012.10:g.51355457G>T | NCBI36 |
| NG_008364.1:g.10002C>A | |
| NG_008364.2:g.10002C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1722C>A MANE Select | ENSP00000252244.3:p.Gly574= | |
| NM_006121.3:c.1722C>A | NP_006112.3:p.Gly574= | |
| NM_006121.4:c.1722C>A MANE Select | NP_006112.3:p.Gly574= |