HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118111594C>A , CM000670.2:g.118111594C>A | GRCh38 |
NC_000008.10:g.119123833C>A , CM000670.1:g.119123833C>A | GRCh37 |
NC_000008.9:g.119193014C>A | NCBI36 |
NG_007455.2:g.5226G>T , LRG_493:g.5226G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378204.7:c.-548G>T MANE Select | ENSP00000367446.3:n.-548G>T | |
ENST00000378204.6:c.-548G>T | ENSP00000367446.2:n.-548G>T | |
NM_000127.2:c.-548G>T , LRG_493t1:c.-548G>T | NP_000118.2:n.-548G>T | |
NM_000127.3:c.-548G>T MANE Select | NP_000118.2:n.-548G>T |