HGVS | Genome Assembly |
---|---|
NC_000011.10:g.86954664G>A , CM000673.2:g.86954664G>A | GRCh38 |
NC_000011.9:g.86665706G>A , CM000673.1:g.86665706G>A | GRCh37 |
NC_000011.8:g.86343354G>A | NCBI36 |
NG_011752.1:g.5728C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000531380.2:c.285+137C>T MANE Select | ENSP00000434034.1:n.285+137C>T | |
ENST00000531380.1:c.285+137C>T | ENSP00000434034.1:n.285+137C>T | |
NM_012193.3:c.285+137C>T | NP_036325.2:n.285+137C>T | |
NM_012193.4:c.285+137C>T MANE Select | NP_036325.2:n.285+137C>T |