HGVS | Genome Assembly |
---|---|
NC_000014.9:g.22843458C>T , CM000676.2:g.22843458C>T | GRCh38 |
NC_000014.8:g.23312667C>T , CM000676.1:g.23312667C>T | GRCh37 |
NC_000014.7:g.22382507C>T | NCBI36 |
NG_046989.1:g.11926C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311852.11:c.850+40C>T MANE Select | ENSP00000308208.6:n.850+40C>T | |
ENST00000548162.2:c.850+40C>T | ENSP00000506068.1:n.850+40C>T | |
ENST00000680097.1:c.*165+40C>T | ENSP00000506631.1:n.*165+40C>T | |
ENST00000680941.1:c.*248+40C>T | ENSP00000506378.1:n.*248+40C>T | |
ENST00000311852.10:c.850+40C>T | ENSP00000308208.6:n.850+40C>T | |
ENST00000548162.1:n.1092+40C>T | ||
NM_004995.3:c.850+40C>T | NP_004986.1:n.850+40C>T | |
NM_004995.4:c.850+40C>T MANE Select | NP_004986.1:n.850+40C>T |