HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52488437G= , CM000674.2:g.52488437G= | GRCh38 |
NC_000012.11:g.52882221G= , CM000674.1:g.52882221G= | GRCh37 |
NC_000012.10:g.51168488G= | NCBI36 |
NG_008298.1:g.9961C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.1315C= MANE Select | ENSP00000369317.3:p.Gln439= | |
ENST00000330722.6:c.1315C= | ENSP00000369317.3:p.Gln439= | |
NM_005554.3:c.1315C= | NP_005545.1:p.Gln439= | |
NM_005554.4:c.1315C= MANE Select | NP_005545.1:p.Gln439= |