HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869211G>T , CM000664.2:g.240869211G>T | GRCh38 |
NC_000002.11:g.241808628G>T , CM000664.1:g.241808628G>T | GRCh37 |
NC_000002.10:g.241457301G>T | NCBI36 |
NG_008005.1:g.5467G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.207G>T MANE Select | ENSP00000302620.3:p.Gln69His | |
ENST00000307503.3:c.207G>T | ENSP00000302620.3:p.Gln69His | |
ENST00000472436.1:n.227G>T | ||
NM_000030.2:c.207G>T | NP_000021.1:p.Gln69His | |
XR_924060.1:n.405+1022C>A | ||
NM_000030.3:c.207G>T MANE Select | NP_000021.1:p.Gln69His |