HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48348957A>T , CM000675.2:g.48348957A>T | GRCh38 |
NC_000013.10:g.48923093A>T , CM000675.1:g.48923093A>T | GRCh37 |
NC_000013.9:g.47821094A>T | NCBI36 |
NG_009009.1:g.50211A>T , LRG_517:g.50211A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.541A>T MANE Select | ENSP00000267163.4:p.Ile181Leu | |
ENST00000650461.1:c.541A>T | ENSP00000497193.1:p.Ile181Leu | |
ENST00000267163.4:c.541A>T | ENSP00000267163.4:p.Ile181Leu | |
ENST00000467505.5:c.138-11060A>T | ENSP00000434702.1:n.138-11060A>T | |
ENST00000525036.1:n.703A>T | ||
NM_000321.2:c.541A>T , LRG_517t1:c.541A>T | NP_000312.2:p.Ile181Leu | |
XM_011535171.1:c.280A>T | XP_011533473.1:p.Ile94Leu | |
XM_011535171.2:c.280A>T | XP_011533473.1:p.Ile94Leu | |
NM_000321.3:c.541A>T MANE Select | NP_000312.2:p.Ile181Leu |