Linked Data
MyVariant Identifiers:
chr12:g.53186026G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52792242G>A , CM000674.2:g.52792242G>A | GRCh38 |
| NC_000012.11:g.53186026G>A , CM000674.1:g.53186026G>A | GRCh37 |
| NC_000012.10:g.51472293G>A | NCBI36 |
| NG_008350.1:g.8867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1185C>T MANE Select | ENSP00000413479.2:p.Thr395= | |
| NM_057088.2:c.1185C>T | NP_476429.2:p.Thr395= | |
| XM_011538324.1:c.825C>T | XP_011536626.1:p.Thr275= | |
| XM_024448975.1:c.1449C>T | XP_024304743.1:p.Thr483= | |
| NM_057088.3:c.1185C>T MANE Select | NP_476429.2:p.Thr395= |