HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008250C>T , CM000666.2:g.88008250C>T | GRCh38 |
NC_000004.11:g.88929402C>T , CM000666.1:g.88929402C>T | GRCh37 |
NC_000004.10:g.89148426C>T | NCBI36 |
NG_008604.1:g.5583C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.517C>T MANE Select | ENSP00000237596.2:p.Pro173Ser | |
ENST00000237596.6:c.517C>T | ENSP00000237596.2:p.Pro173Ser | |
ENST00000506727.1:n.19C>T | ||
NM_000297.3:c.517C>T | NP_000288.1:p.Pro173Ser | |
XM_011532028.1:c.517C>T | XP_011530330.1:p.Pro173Ser | |
XR_244632.2:n.612C>T | ||
NR_156488.1:n.604C>T | ||
XM_011532028.2:c.517C>T | XP_011530330.1:p.Pro173Ser | |
NM_000297.4:c.517C>T MANE Select | NP_000288.1:p.Pro173Ser | |
NR_156488.2:n.616C>T |