HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99420644A= , CM000666.2:g.99420644A= | GRCh38 |
NC_000004.11:g.100341801A= , CM000666.1:g.100341801A= | GRCh37 |
NC_000004.10:g.100560824A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000437033.7:c.714T= MANE Select | ENSP00000414254.2:p.Thr238= | |
ENST00000209665.8:c.750T= | ENSP00000209665.4:p.Thr250= | |
ENST00000437033.6:c.714T= | ENSP00000414254.2:p.Thr238= | |
ENST00000476959.5:c.774T= | ENSP00000420269.1:p.Thr258= | |
ENST00000482593.5:c.543T= | ENSP00000420613.1:p.Thr181= | |
NM_000673.4:c.750T= | NP_000664.2:p.Thr250= | |
NM_001166504.1:c.774T= | NP_001159976.1:p.Thr258= | |
NM_000673.7:c.714T= MANE Select | NP_000664.3:p.Thr238= | |
NM_001166504.2:c.774T= | NP_001159976.1:p.Thr258= |