HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459733T>G , CM000675.2:g.48459733T>G | GRCh38 |
NC_000013.10:g.49033869T>G , CM000675.1:g.49033869T>G | GRCh37 |
NC_000013.9:g.47931870T>G | NCBI36 |
NG_009009.1:g.160987T>G , LRG_517:g.160987T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2006T>G MANE Select | ENSP00000267163.4:p.Leu669Arg | |
ENST00000643064.1:c.194+78290T>G | ||
ENST00000650461.1:c.2006T>G | ENSP00000497193.1:p.Leu669Arg | |
ENST00000267163.4:c.2006T>G | ENSP00000267163.4:p.Leu669Arg | |
NM_000321.2:c.2006T>G , LRG_517t1:c.2006T>G | NP_000312.2:p.Leu669Arg | |
XM_011535171.1:c.1745T>G | XP_011533473.1:p.Leu582Arg | |
XM_011535171.2:c.1745T>G | XP_011533473.1:p.Leu582Arg | |
NM_000321.3:c.2006T>G MANE Select | NP_000312.2:p.Leu669Arg |