HGVS | Genome Assembly |
---|---|
NC_000016.10:g.84031909A>T , CM000678.2:g.84031909A>T | GRCh38 |
NC_000016.9:g.84065514A>T , CM000678.1:g.84065514A>T | GRCh37 |
NC_000016.8:g.82623015A>T | NCBI36 |
NG_034136.1:g.15249T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299709.8:c.590T>A MANE Select | ENSP00000299709.3:p.Leu197His | |
ENST00000299709.7:c.590T>A | ENSP00000299709.3:p.Leu197His | |
ENST00000568178.1:c.590T>A | ENSP00000457737.1:p.Leu197His | |
NM_001080442.2:c.590T>A | NP_001073911.1:p.Leu197His | |
XM_011522872.1:c.590T>A | XP_011521174.1:p.Leu197His | |
XM_017022946.1:c.590T>A | XP_016878435.1:p.Leu197His | |
NM_001080442.3:c.590T>A MANE Select | NP_001073911.1:p.Leu197His |