HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55368516C>A , CM000681.2:g.55368516C>A | GRCh38 |
NC_000019.9:g.55879884C>A , CM000681.1:g.55879884C>A | GRCh37 |
NC_000019.8:g.60571696C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264563.7:c.234G>T MANE Select | ENSP00000264563.1:p.Leu78= | |
ENST00000264563.6:c.234G>T | ENSP00000264563.1:p.Leu78= | |
ENST00000585513.1:c.234G>T | ENSP00000467355.1:p.Leu78= | |
ENST00000587093.1:c.-4G>T | ENSP00000468663.1:n.-4G>T | |
ENST00000590625.5:c.-4G>T | ENSP00000465705.1:n.-4G>T | |
NM_000641.3:c.234G>T | NP_000632.1:p.Leu78= | |
NM_001267718.1:c.-4G>T | NP_001254647.1:n.-4G>T | |
NM_000641.4:c.234G>T MANE Select | NP_000632.1:p.Leu78= | |
NM_001267718.2:c.-4G>T | NP_001254647.1:n.-4G>T |