HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488510C>T , CM000674.2:g.52488510C>T | GRCh38 |
NC_000012.11:g.52882294C>T , CM000674.1:g.52882294C>T | GRCh37 |
NC_000012.10:g.51168561C>T | NCBI36 |
NG_008298.1:g.9888G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1242G>A MANE Select | ENSP00000369317.3:p.Gln414= | |
ENST00000330722.6:c.1242G>A | ENSP00000369317.3:p.Gln414= | |
NM_005554.3:c.1242G>A | NP_005545.1:p.Gln414= | |
NM_005554.4:c.1242G>A MANE Select | NP_005545.1:p.Gln414= |