Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520001C>G , CM000674.2:g.52520001C>G | GRCh38 |
| NC_000012.11:g.52913785C>G , CM000674.1:g.52913785C>G | GRCh37 |
| NC_000012.10:g.51200052C>G | NCBI36 |
| NG_008297.1:g.5459G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.296G>C MANE Select | ENSP00000252242.4:p.Gly99Ala | |
| ENST00000252242.8:c.296G>C | ENSP00000252242.4:p.Gly99Ala | |
| ENST00000546577.1:c.296G>C | ENSP00000449651.1:p.Gly99Ala | |
| ENST00000549420.1:c.44-78G>C | ENSP00000447209.1:n.44-78G>C | |
| ENST00000551275.1:c.191G>C | ENSP00000448041.1:p.Gly64Ala | |
| ENST00000552629.5:n.394G>C | ||
| NM_000424.3:c.296G>C | NP_000415.2:p.Gly99Ala | |
| NM_000424.4:c.296G>C MANE Select | NP_000415.2:p.Gly99Ala |