HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459711C>A , CM000675.2:g.48459711C>A | GRCh38 |
NC_000013.10:g.49033847C>A , CM000675.1:g.49033847C>A | GRCh37 |
NC_000013.9:g.47931848C>A | NCBI36 |
NG_009009.1:g.160965C>A , LRG_517:g.160965C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1984C>A MANE Select | ENSP00000267163.4:p.Leu662Ile | |
ENST00000643064.1:c.194+78268C>A | ||
ENST00000650461.1:c.1984C>A | ENSP00000497193.1:p.Leu662Ile | |
ENST00000267163.4:c.1984C>A | ENSP00000267163.4:p.Leu662Ile | |
NM_000321.2:c.1984C>A , LRG_517t1:c.1984C>A | NP_000312.2:p.Leu662Ile | |
XM_011535171.1:c.1723C>A | XP_011533473.1:p.Leu575Ile | |
XM_011535171.2:c.1723C>A | XP_011533473.1:p.Leu575Ile | |
NM_000321.3:c.1984C>A MANE Select | NP_000312.2:p.Leu662Ile |