HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55368512T>A , CM000681.2:g.55368512T>A | GRCh38 |
NC_000019.9:g.55879880T>A , CM000681.1:g.55879880T>A | GRCh37 |
NC_000019.8:g.60571692T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264563.7:c.238A>T MANE Select | ENSP00000264563.1:p.Met80Leu | |
ENST00000264563.6:c.238A>T | ENSP00000264563.1:p.Met80Leu | |
ENST00000585513.1:c.238A>T | ENSP00000467355.1:p.Met80Leu | |
ENST00000587093.1:c.1A>T | ENSP00000468663.1:p.Met1Leu | |
ENST00000590625.5:c.1A>T | ENSP00000465705.1:p.Met1Leu | |
NM_000641.3:c.238A>T | NP_000632.1:p.Met80Leu | |
NM_001267718.1:c.1A>T | NP_001254647.1:p.Met1Leu | |
NM_000641.4:c.238A>T MANE Select | NP_000632.1:p.Met80Leu | |
NM_001267718.2:c.1A>T | NP_001254647.1:p.Met1Leu |