HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8587812G>T , CM000685.2:g.8587812G>T | GRCh38 |
NC_000023.10:g.8555853G>T , CM000685.1:g.8555853G>T | GRCh37 |
NC_000023.9:g.8515853G>T | NCBI36 |
NG_007088.1:g.149375C>A | |
NG_007088.2:g.149375C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262648.8:c.708C>A MANE Select | ENSP00000262648.3:p.His236Gln | |
ENST00000262648.7:c.708C>A | ENSP00000262648.3:p.His236Gln | |
ENST00000619786.1:c.705C>A | ENSP00000478734.1:p.His235Gln | |
NM_000216.2:c.708C>A | NP_000207.2:p.His236Gln | |
XM_005274501.3:c.708C>A | XP_005274558.1:p.His236Gln | |
NM_000216.3:c.708C>A | NP_000207.2:p.His236Gln | |
XM_005274501.4:c.708C>A | XP_005274558.1:p.His236Gln | |
NM_000216.4:c.708C>A MANE Select | NP_000207.2:p.His236Gln |