HGVS | Genome Assembly |
---|---|
NC_000014.9:g.21312490G>C , CM000676.2:g.21312490G>C | GRCh38 |
NC_000014.8:g.21780649G>C , CM000676.1:g.21780649G>C | GRCh37 |
NC_000014.7:g.20850489G>C | NCBI36 |
NG_008933.1:g.29514G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400017.7:c.1135G>C MANE Select | ENSP00000382895.2:p.Asp379His | |
ENST00000400017.6:c.1135G>C | ENSP00000382895.2:p.Asp379His | |
ENST00000556336.5:c.1054G>C | ENSP00000450445.1:p.Asp352His | |
ENST00000557771.5:c.1054G>C | ENSP00000451219.1:p.Asp352His | |
NM_020366.3:c.1135G>C | NP_065099.3:p.Asp379His | |
XM_011536983.1:c.1102G>C | XP_011535285.1:p.Asp368His | |
NM_020366.4:c.1135G>C MANE Select | NP_065099.3:p.Asp379His |