HGVS | Genome Assembly |
---|---|
NC_000023.11:g.21845372G>T , CM000685.2:g.21845372G>T | GRCh38 |
NC_000023.10:g.21863490G>T , CM000685.1:g.21863490G>T | GRCh37 |
NC_000023.9:g.21773411G>T | NCBI36 |
NG_012797.1:g.10835G>T | |
NG_012797.2:g.10835G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379484.10:c.426G>T MANE Select | ENSP00000368798.5:p.Val142= | |
ENST00000365779.2:c.426G>T | ENSP00000368796.1:p.Val142= | |
ENST00000379484.9:c.426G>T | ENSP00000368798.5:p.Val142= | |
ENST00000465888.1:n.525G>T | ||
NM_015884.3:c.426G>T | NP_056968.1:p.Val142= | |
NM_015884.4:c.426G>T MANE Select | NP_056968.1:p.Val142= |