HGVS | Genome Assembly |
---|---|
NC_000007.14:g.150861339A>G , CM000669.2:g.150861339A>G | GRCh38 |
NC_000007.13:g.150558427A>G , CM000669.1:g.150558427A>G | GRCh37 |
NC_000007.12:g.150189360A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360937.9:c.*130A>G MANE Select | ENSP00000354193.4:n.*130A>G | |
ENST00000360937.8:c.*130A>G | ENSP00000354193.4:n.*130A>G | |
ENST00000467291.5:c.*130A>G | ENSP00000418328.1:n.*130A>G | |
ENST00000493429.5:c.*130A>G | ENSP00000418614.1:n.*130A>G | |
XR_928169.1:n.295+15670T>C | ||
XR_928170.1:n.425+7277T>C | ||
XR_928171.1:n.297+15670T>C | ||
XR_928169.2:n.301+15670T>C | ||
XR_928171.2:n.301+15670T>C | ||
NM_001091.4:c.*130A>G MANE Select | NP_001082.2:n.*130A>G | |
NM_001272072.2:c.*130A>G | NP_001259001.1:n.*130A>G |