HGVS | Genome Assembly |
---|---|
NC_000005.10:g.33944801T>G , CM000667.2:g.33944801T>G | GRCh38 |
NC_000005.9:g.33944906T>G , CM000667.1:g.33944906T>G | GRCh37 |
NC_000005.8:g.33980663T>G | NCBI36 |
NG_011691.2:g.44875A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296589.9:c.1440A>C MANE Select | ENSP00000296589.4:p.Thr480= | |
ENST00000296589.8:c.1440A>C | ENSP00000296589.4:p.Thr480= | |
NM_016180.4:c.1440A>C | NP_057264.3:p.Thr480= | |
XM_011514051.1:c.1038A>C | XP_011512353.1:p.Thr346= | |
NM_016180.5:c.1440A>C MANE Select | NP_057264.4:p.Thr480= |