HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55368513G>T , CM000681.2:g.55368513G>T | GRCh38 |
NC_000019.9:g.55879881G>T , CM000681.1:g.55879881G>T | GRCh37 |
NC_000019.8:g.60571693G>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264563.7:c.237C>A MANE Select | ENSP00000264563.1:p.Ala79= | |
ENST00000264563.6:c.237C>A | ENSP00000264563.1:p.Ala79= | |
ENST00000585513.1:c.237C>A | ENSP00000467355.1:p.Ala79= | |
ENST00000587093.1:c.-1C>A | ENSP00000468663.1:n.-1C>A | |
ENST00000590625.5:c.-1C>A | ENSP00000465705.1:n.-1C>A | |
NM_000641.3:c.237C>A | NP_000632.1:p.Ala79= | |
NM_001267718.1:c.-1C>A | NP_001254647.1:n.-1C>A | |
NM_000641.4:c.237C>A MANE Select | NP_000632.1:p.Ala79= | |
NM_001267718.2:c.-1C>A | NP_001254647.1:n.-1C>A |