HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459733T>A , CM000675.2:g.48459733T>A | GRCh38 |
NC_000013.10:g.49033869T>A , CM000675.1:g.49033869T>A | GRCh37 |
NC_000013.9:g.47931870T>A | NCBI36 |
NG_009009.1:g.160987T>A , LRG_517:g.160987T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2006T>A MANE Select | ENSP00000267163.4:p.Leu669His | |
ENST00000643064.1:c.194+78290T>A | ||
ENST00000650461.1:c.2006T>A | ENSP00000497193.1:p.Leu669His | |
ENST00000267163.4:c.2006T>A | ENSP00000267163.4:p.Leu669His | |
NM_000321.2:c.2006T>A , LRG_517t1:c.2006T>A | NP_000312.2:p.Leu669His | |
XM_011535171.1:c.1745T>A | XP_011533473.1:p.Leu582His | |
XM_011535171.2:c.1745T>A | XP_011533473.1:p.Leu582His | |
NM_000321.3:c.2006T>A MANE Select | NP_000312.2:p.Leu669His |