HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65239977C= , CM000674.2:g.65239977C= | GRCh38 |
NC_000012.11:g.65633757C= , CM000674.1:g.65633757C= | GRCh37 |
NC_000012.10:g.63920024C= | NCBI36 |
NG_016210.1:g.75407C= | |
NG_016210.2:g.75407C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.1970C= MANE Select | ENSP00000308369.2:p.Thr657= | |
ENST00000308330.2:c.1970C= | ENSP00000308369.2:p.Thr657= | |
NM_001167614.1:c.1967C= | NP_001161086.1:p.Thr656= | |
NM_014319.4:c.1970C= | NP_055134.2:p.Thr657= | |
NM_014319.5:c.1970C= MANE Select | NP_055134.2:p.Thr657= | |
NM_001167614.2:c.1967C= | NP_001161086.1:p.Thr656= |