HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527581C>A , CM000681.2:g.7527581C>A | GRCh38 |
NC_000019.9:g.7592467C>A , CM000681.1:g.7592467C>A | GRCh37 |
NC_000019.8:g.7498467C>A | NCBI36 |
NG_015806.1:g.9972C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.633C>A MANE Select | ENSP00000264079.5:p.Leu211= | |
ENST00000264079.10:c.633C>A | ENSP00000264079.5:p.Leu211= | |
ENST00000394321.9:n.713C>A | ||
ENST00000598406.1:n.454C>A | ||
ENST00000601003.1:c.572-283C>A | ENSP00000469074.1:n.572-283C>A | |
NM_020533.2:c.633C>A | NP_065394.1:p.Leu211= | |
NM_020533.3:c.633C>A MANE Select | NP_065394.1:p.Leu211= |