HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300915A>T , CM000667.2:g.128300915A>T | GRCh38 |
NC_000005.9:g.127636607A>T , CM000667.1:g.127636607A>T | GRCh37 |
NC_000005.8:g.127664506A>T | NCBI36 |
NG_008750.1:g.242129T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2852T>A | ||
ENST00000703785.1:n.2771T>A | ||
ENST00000262464.9:c.6068T>A MANE Select | ENSP00000262464.4:p.Leu2023His | |
ENST00000262464.8:c.6068T>A | ENSP00000262464.4:p.Leu2023His | |
ENST00000508053.5:c.6068T>A | ENSP00000424571.1:p.Leu2023His | |
ENST00000619499.4:c.6065T>A | ENSP00000482132.1:p.Leu2022His | |
NM_001999.3:c.6068T>A | NP_001990.2:p.Leu2023His | |
XM_017009228.2:c.5915T>A | XP_016864717.1:p.Leu1972His | |
NM_001999.4:c.6068T>A MANE Select | NP_001990.2:p.Leu2023His |