HGVS | Genome Assembly |
---|---|
NC_000016.10:g.57361752G>A , CM000678.2:g.57361752G>A | GRCh38 |
NC_000016.9:g.57395664G>A , CM000678.1:g.57395664G>A | GRCh37 |
NC_000016.8:g.55953165G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219235.5:c.197+1192G>A MANE Select | ENSP00000219235.4:n.197+1192G>A | |
ENST00000219235.4:c.197+1192G>A | ENSP00000219235.4:n.197+1192G>A | |
NM_002990.4:c.197+1192G>A | NP_002981.2:n.197+1192G>A | |
NM_002990.5:c.197+1192G>A MANE Select | NP_002981.2:n.197+1192G>A |