HGVS | Genome Assembly |
---|---|
NC_000007.14:g.41961326C>T , CM000669.2:g.41961326C>T | GRCh38 |
NC_000007.13:g.42000924C>T , CM000669.1:g.42000924C>T | GRCh37 |
NC_000007.12:g.41967449C>T | NCBI36 |
NG_008434.1:g.280695G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395925.8:c.*3004G>A MANE Select | ENSP00000379258.3:n.*3004G>A | |
ENST00000677288.1:c.*3004G>A | ENSP00000503986.1:n.*3004G>A | |
ENST00000677605.1:c.*3004G>A | ENSP00000503743.1:n.*3004G>A | |
ENST00000678429.1:c.*3004G>A | ENSP00000502957.1:n.*3004G>A | |
ENST00000395925.7:c.*3004G>A | ENSP00000379258.3:n.*3004G>A | |
NM_000168.5:c.*3004G>A | NP_000159.3:n.*3004G>A | |
XM_005249703.1:c.*3004G>A | XP_005249760.1:n.*3004G>A | |
XM_005249704.2:c.*3004G>A | XP_005249761.1:n.*3004G>A | |
XM_011515272.1:c.*3004G>A | XP_011513574.1:n.*3004G>A | |
XM_011515273.1:c.*3004G>A | XP_011513575.1:n.*3004G>A | |
XM_011515274.1:c.*3004G>A | XP_011513576.1:n.*3004G>A | |
NM_000168.6:c.*3004G>A MANE Select | NP_000159.3:n.*3004G>A |