HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69353365G>T , CM000674.2:g.69353365G>T | GRCh38 |
NC_000012.11:g.69747145G>T , CM000674.1:g.69747145G>T | GRCh37 |
NC_000012.10:g.68033412G>T | NCBI36 |
NG_008195.1:g.10012G>T , LRG_768:g.10012G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261267.7:c.*146G>T MANE Select | ENSP00000261267.2:n.*146G>T | |
ENST00000261267.6:c.*146G>T | ENSP00000261267.2:n.*146G>T | |
ENST00000549690.1:c.*100G>T | ENSP00000449898.1:n.*100G>T | |
NM_000239.2:c.*146G>T , LRG_768t1:c.*146G>T | NP_000230.1:n.*146G>T | |
NM_000239.3:c.*146G>T MANE Select | NP_000230.1:n.*146G>T |