HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7526855A>T , CM000681.2:g.7526855A>T | GRCh38 |
NC_000019.9:g.7591741A>T , CM000681.1:g.7591741A>T | GRCh37 |
NC_000019.8:g.7497741A>T | NCBI36 |
NG_015806.1:g.9246A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.500A>T MANE Select | ENSP00000264079.5:p.Gln167Leu | |
ENST00000264079.10:c.500A>T | ENSP00000264079.5:p.Gln167Leu | |
ENST00000394321.9:n.580A>T | ||
ENST00000596008.1:n.462A>T | ||
ENST00000598406.1:n.321A>T | ||
ENST00000601003.1:c.500A>T | ENSP00000469074.1:p.Gln167Leu | |
NM_020533.2:c.500A>T | NP_065394.1:p.Gln167Leu | |
NM_020533.3:c.500A>T MANE Select | NP_065394.1:p.Gln167Leu |