HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94762726T>C , CM000672.2:g.94762726T>C | GRCh38 |
NC_000010.10:g.96522483T>C , CM000672.1:g.96522483T>C | GRCh37 |
NC_000010.9:g.96512473T>C | NCBI36 |
NG_008384.2:g.5021T>C | |
NG_008384.3:g.5046T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.21T>C MANE Select | ENSP00000360372.3:p.Leu7= | |
ENST00000371321.7:c.21T>C | ENSP00000360372.3:p.Leu7= | |
ENST00000464755.1:c.932-12332T>C | ENSP00000483243.1:n.932-12332T>C | |
ENST00000480405.2:c.21T>C | ENSP00000483847.1:p.Leu7= | |
NM_000769.2:c.21T>C | NP_000760.1:p.Leu7= | |
NM_000769.4:c.21T>C MANE Select | NP_000760.1:p.Leu7= |