HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48587334T= , CM000681.2:g.48587334T= | GRCh38 |
NC_000019.9:g.49090591T= , CM000681.1:g.49090591T= | GRCh37 |
NC_000019.8:g.53782403T= | NCBI36 |
NG_029063.1:g.40163T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000201586.7:c.320T= MANE Select | ENSP00000201586.2:p.Ile107= | |
ENST00000201586.6:c.320T= | ENSP00000201586.1:p.Ile107= | |
ENST00000323090.4:c.275T= | ENSP00000312880.3:p.Ile92= | |
NM_004605.2:c.275T= | NP_004596.2:p.Ile92= | |
NM_177973.1:c.320T= | NP_814444.1:p.Ile107= | |
NM_177973.2:c.320T= MANE Select | NP_814444.1:p.Ile107= |