HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45566024G>C , CM000684.2:g.45566024G>C | GRCh38 |
NC_000022.10:g.45961904G>C , CM000684.1:g.45961904G>C | GRCh37 |
NC_000022.9:g.44340568G>C | NCBI36 |
NG_023308.2:g.68186G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327858.11:c.1698-8487G>C MANE Select | ENSP00000331544.6:n.1698-8487G>C | |
ENST00000327858.10:c.1698-8487G>C | ENSP00000331544.6:n.1698-8487G>C | |
NM_006486.2:c.1698-8487G>C | NP_006477.2:n.1698-8487G>C | |
NM_006486.3:c.1698-8487G>C MANE Select | NP_006477.3:n.1698-8487G>C |