HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189563844A>T , CM000664.2:g.189563844A>T | GRCh38 |
NC_000002.11:g.190428570A>T , CM000664.1:g.190428570A>T | GRCh37 |
NC_000002.10:g.190136815A>T | NCBI36 |
NG_009027.1:g.21968T>A , LRG_837:g.21968T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261024.7:c.1142T>A MANE Select | ENSP00000261024.3:p.Leu381His | |
ENST00000261024.6:c.1142T>A | ENSP00000261024.2:p.Leu381His | |
NM_014585.5:c.1142T>A , LRG_837t1:c.1142T>A | NP_055400.1:p.Leu381His | |
XM_005246505.1:c.1022T>A | XP_005246562.1:p.Leu341His | |
XM_005246505.2:c.1022T>A | XP_005246562.1:p.Leu341His | |
XM_017003938.2:c.1022T>A | XP_016859427.1:p.Leu341His | |
NM_014585.6:c.1142T>A MANE Select | NP_055400.1:p.Leu381His |