HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55368517A>G , CM000681.2:g.55368517A>G | GRCh38 |
NC_000019.9:g.55879885A>G , CM000681.1:g.55879885A>G | GRCh37 |
NC_000019.8:g.60571697A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264563.7:c.233T>C MANE Select | ENSP00000264563.1:p.Leu78Pro | |
ENST00000264563.6:c.233T>C | ENSP00000264563.1:p.Leu78Pro | |
ENST00000585513.1:c.233T>C | ENSP00000467355.1:p.Leu78Pro | |
ENST00000587093.1:c.-5T>C | ENSP00000468663.1:n.-5T>C | |
ENST00000590625.5:c.-5T>C | ENSP00000465705.1:n.-5T>C | |
NM_000641.3:c.233T>C | NP_000632.1:p.Leu78Pro | |
NM_001267718.1:c.-5T>C | NP_001254647.1:n.-5T>C | |
NM_000641.4:c.233T>C MANE Select | NP_000632.1:p.Leu78Pro | |
NM_001267718.2:c.-5T>C | NP_001254647.1:n.-5T>C |