HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50459817C>A , CM000685.2:g.50459817C>A | GRCh38 |
NC_000023.10:g.50202815C>A , CM000685.1:g.50202815C>A | GRCh37 |
NC_000023.9:g.50219555C>A | NCBI36 |
NG_033143.2:g.15906G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000611977.2:c.645+10217G>T MANE Select | ENSP00000477515.1:n.645+10217G>T | |
ENST00000611977.1:c.645+10217G>T | ENSP00000477515.1:n.645+10217G>T | |
NM_001013742.3:c.645+10217G>T | NP_001013764.1:n.645+10217G>T | |
XM_017029268.2:c.645+10217G>T | XP_016884757.1:n.645+10217G>T | |
NM_001013742.4:c.645+10217G>T MANE Select | NP_001013764.1:n.645+10217G>T |