HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985994G>C , CM000678.2:g.1985994G>C | GRCh38 |
NC_000016.9:g.2035995G>C , CM000678.1:g.2035995G>C | GRCh37 |
NC_000016.8:g.1975996G>C | NCBI36 |
NG_016288.1:g.6846G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.359G>C | ENSP00000455885.1:p.Trp120Ser | |
ENST00000248114.7:c.584G>C MANE Select | ENSP00000248114.6:p.Trp195Ser | |
ENST00000248114.6:c.584G>C | ENSP00000248114.6:p.Trp195Ser | |
ENST00000565658.1:n.741G>C | ||
ENST00000567719.1:c.359G>C | ENSP00000455885.1:p.Trp120Ser | |
ENST00000569451.1:c.*57G>C | ENSP00000456432.1:n.*57G>C | |
NM_005262.2:c.584G>C | NP_005253.3:p.Trp195Ser | |
NM_005262.3:c.584G>C MANE Select | NP_005253.3:p.Trp195Ser |