HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085594G>T , CM000666.2:g.186085594G>T | GRCh38 |
NC_000004.11:g.187006748G>T , CM000666.1:g.187006748G>T | GRCh37 |
NC_000004.10:g.187243742G>T | NCBI36 |
NG_007278.1:g.21440G>T , LRG_117:g.21440G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698352.1:c.*2988G>T | ENSP00000513675.1:n.*2988G>T | |
ENST00000698353.1:n.3311G>T | ||
ENST00000698354.1:c.*721G>T | ENSP00000513676.1:n.*721G>T | |
ENST00000296795.8:c.*721G>T MANE Select | ENSP00000296795.3:n.*721G>T | |
ENST00000296795.7:c.*721G>T | ENSP00000296795.2:n.*721G>T | |
NM_003265.3:c.*721G>T MANE Select | NP_003256.1:n.*721G>T |