HGVS | Genome Assembly |
---|---|
NC_000011.10:g.92972120G>C , CM000673.2:g.92972120G>C | GRCh38 |
NC_000011.9:g.92705286G>C , CM000673.1:g.92705286G>C | GRCh37 |
NC_000011.8:g.92344934G>C | NCBI36 |
NG_028160.1:g.7498G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257068.3:c.223+2172G>C MANE Select | ENSP00000257068.2:n.223+2172G>C | |
ENST00000257068.2:c.223+2172G>C | ENSP00000257068.2:n.223+2172G>C | |
ENST00000528076.1:c.165+2172G>C | ||
ENST00000532482.1:c.224-341G>C | ENSP00000436101.1:n.224-341G>C | |
NM_005959.3:c.223+2172G>C | NP_005950.1:n.223+2172G>C | |
XM_011542839.1:c.223+2172G>C | XP_011541141.1:n.223+2172G>C | |
XM_011542839.2:c.223+2172G>C | XP_011541141.1:n.223+2172G>C | |
NM_005959.5:c.223+2172G>C MANE Select | NP_005950.1:n.223+2172G>C |