HGVS | Genome Assembly |
---|---|
NC_000011.10:g.92972142T>C , CM000673.2:g.92972142T>C | GRCh38 |
NC_000011.9:g.92705308T>C , CM000673.1:g.92705308T>C | GRCh37 |
NC_000011.8:g.92344956T>C | NCBI36 |
NG_028160.1:g.7520T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000257068.3:c.223+2194T>C MANE Select | ENSP00000257068.2:n.223+2194T>C | |
ENST00000257068.2:c.223+2194T>C | ENSP00000257068.2:n.223+2194T>C | |
ENST00000528076.1:c.165+2194T>C | ||
ENST00000532482.1:c.224-319T>C | ENSP00000436101.1:n.224-319T>C | |
NM_005959.3:c.223+2194T>C | NP_005950.1:n.223+2194T>C | |
XM_011542839.1:c.223+2194T>C | XP_011541141.1:n.223+2194T>C | |
XM_011542839.2:c.223+2194T>C | XP_011541141.1:n.223+2194T>C | |
NM_005959.5:c.223+2194T>C MANE Select | NP_005950.1:n.223+2194T>C |