HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31622660G>A , CM000668.2:g.31622660G>A | GRCh38 |
NC_000006.11:g.31590437G>A , CM000668.1:g.31590437G>A | GRCh37 |
NC_000006.10:g.31698416G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376033.3:c.-100-30G>A MANE Select | ENSP00000365201.2:n.-100-30G>A | |
ENST00000376007.8:c.-63-67G>A | ENSP00000365175.4:n.-63-67G>A | |
ENST00000376033.2:c.-100-30G>A | ENSP00000365201.2:n.-100-30G>A | |
ENST00000469577.5:n.136-1601G>A | ||
NM_004638.3:c.-100-30G>A | NP_004629.3:n.-100-30G>A | |
NM_080686.2:c.-63-67G>A | NP_542417.2:n.-63-67G>A | |
XM_011514890.1:c.-63-67G>A | XP_011513192.1:n.-63-67G>A | |
NM_004638.4:c.-100-30G>A MANE Select | NP_004629.3:n.-100-30G>A | |
NM_080686.3:c.-63-67G>A | NP_542417.2:n.-63-67G>A |