HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731837T>A , CM000685.2:g.8731837T>A | GRCh38 |
NC_000023.10:g.8699878T>A , CM000685.1:g.8699878T>A | GRCh37 |
NC_000023.9:g.8659878T>A | NCBI36 |
NG_007088.1:g.5350A>T | |
NG_007088.2:g.5350A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.200A>T MANE Select | ENSP00000262648.3:p.His67Leu | |
ENST00000262648.7:c.200A>T | ENSP00000262648.3:p.His67Leu | |
ENST00000619786.1:c.197A>T | ENSP00000478734.1:p.His66Leu | |
NM_000216.2:c.200A>T | NP_000207.2:p.His67Leu | |
XM_005274501.3:c.200A>T | XP_005274558.1:p.His67Leu | |
NM_000216.3:c.200A>T | NP_000207.2:p.His67Leu | |
XM_005274501.4:c.200A>T | XP_005274558.1:p.His67Leu | |
NM_000216.4:c.200A>T MANE Select | NP_000207.2:p.His67Leu |