HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47853173G>A , CM000679.2:g.47853173G>A | GRCh38 |
NC_000017.10:g.45930539G>A , CM000679.1:g.45930539G>A | GRCh37 |
NC_000017.9:g.43285538G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000342234.3:c.-58+2481C>T | ENSP00000340799.2:n.-58+2481C>T | |
NM_199262.2:c.-58+2481C>T | NP_954871.1:n.-58+2481C>T | |
XM_006722115.2:c.-57-4687C>T | XP_006722178.1:n.-57-4687C>T | |
XM_006722115.3:c.-57-4687C>T | XP_006722178.1:n.-57-4687C>T | |
NM_199262.3:c.-58+2481C>T | NP_954871.1:n.-58+2481C>T |