HGVS | Genome Assembly |
---|---|
NC_000014.9:g.21312434T>G , CM000676.2:g.21312434T>G | GRCh38 |
NC_000014.8:g.21780593T>G , CM000676.1:g.21780593T>G | GRCh37 |
NC_000014.7:g.20850433T>G | NCBI36 |
NG_008933.1:g.29458T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400017.7:c.1079T>G MANE Select | ENSP00000382895.2:p.Phe360Cys | |
ENST00000400017.6:c.1079T>G | ENSP00000382895.2:p.Phe360Cys | |
ENST00000556336.5:c.998T>G | ENSP00000450445.1:p.Phe333Cys | |
ENST00000557771.5:c.998T>G | ENSP00000451219.1:p.Phe333Cys | |
NM_020366.3:c.1079T>G | NP_065099.3:p.Phe360Cys | |
XM_011536983.1:c.1046T>G | XP_011535285.1:p.Phe349Cys | |
NM_020366.4:c.1079T>G MANE Select | NP_065099.3:p.Phe360Cys |