HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150861309G>T , CM000669.2:g.150861309G>T | GRCh38 |
NC_000007.13:g.150558397G>T , CM000669.1:g.150558397G>T | GRCh37 |
NC_000007.12:g.150189330G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360937.9:c.*100G>T MANE Select | ENSP00000354193.4:n.*100G>T | |
ENST00000360937.8:c.*100G>T | ENSP00000354193.4:n.*100G>T | |
ENST00000467291.5:c.*100G>T | ENSP00000418328.1:n.*100G>T | |
ENST00000493429.5:c.*100G>T | ENSP00000418614.1:n.*100G>T | |
XR_928169.1:n.295+15700C>A | ||
XR_928170.1:n.425+7307C>A | ||
XR_928171.1:n.297+15700C>A | ||
XR_928169.2:n.301+15700C>A | ||
XR_928171.2:n.301+15700C>A | ||
NM_001091.4:c.*100G>T MANE Select | NP_001082.2:n.*100G>T | |
NM_001272072.2:c.*100G>T | NP_001259001.1:n.*100G>T |