HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17816872C>A , CM000681.2:g.17816872C>A | GRCh38 |
NC_000019.9:g.17927681C>A , CM000681.1:g.17927681C>A | GRCh37 |
NC_000019.8:g.17788681C>A | NCBI36 |
NG_012092.1:g.9640G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.378G>T MANE Select | ENSP00000321724.6:p.Leu126= | |
ENST00000317306.7:c.378G>T | ENSP00000321724.6:p.Leu126= | |
ENST00000379695.5:c.473G>T | ENSP00000369017.4:p.Ter158Leu | |
ENST00000598577.1:c.399G>T | ||
NM_001265587.1:c.473G>T | NP_001252516.1:p.Ter158Leu | |
NM_005543.3:c.378G>T | NP_005534.2:p.Leu126= | |
NM_001265587.2:c.473G>T | NP_001252516.1:p.Ter158Leu | |
NM_005543.4:c.378G>T MANE Select | NP_005534.2:p.Leu126= |