HGVS | Genome Assembly |
---|---|
NC_000004.12:g.23795377C>T , CM000666.2:g.23795377C>T | GRCh38 |
NC_000004.11:g.23797000C>T , CM000666.1:g.23797000C>T | GRCh37 |
NC_000004.10:g.23406098C>T | NCBI36 |
NG_028250.1:g.99701G>A | |
NG_028250.2:g.682599G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264867.7:c.*445G>A MANE Select | ENSP00000264867.2:n.*445G>A | |
ENST00000264867.6:c.*445G>A | ENSP00000264867.2:n.*445G>A | |
ENST00000509702.5:n.2433+449G>A | ||
ENST00000613098.4:c.*445G>A | ENSP00000481498.1:n.*445G>A | |
NM_013261.3:c.*445G>A | NP_037393.1:n.*445G>A | |
XM_005248130.2:c.*445G>A | XP_005248187.1:n.*445G>A | |
XM_005248131.3:c.*445G>A | XP_005248188.1:n.*445G>A | |
XM_005248132.1:c.*445G>A | XP_005248189.1:n.*445G>A | |
XM_005248134.3:c.*474G>A | XP_005248191.1:n.*474G>A | |
XM_011513764.1:c.*445G>A | XP_011512066.1:n.*445G>A | |
XM_011513765.1:c.*445G>A | XP_011512067.1:n.*445G>A | |
XM_011513766.1:c.*445G>A | XP_011512068.1:n.*445G>A | |
XM_011513767.1:c.*445G>A | XP_011512069.1:n.*445G>A | |
XM_011513768.1:c.*445G>A | XP_011512070.1:n.*445G>A | |
XM_011513770.1:c.*445G>A | XP_011512072.1:n.*445G>A | |
XM_011513771.1:c.*445G>A | XP_011512073.1:n.*445G>A | |
NM_001330751.1:c.*445G>A | NP_001317680.1:n.*445G>A | |
NM_001330752.1:c.*445G>A | NP_001317681.1:n.*445G>A | |
NM_001330753.1:c.*445G>A | NP_001317682.1:n.*445G>A | |
NM_001354825.1:c.*445G>A | NP_001341754.1:n.*445G>A | |
NM_001354826.1:c.*445G>A | NP_001341755.1:n.*445G>A | |
NM_001354827.1:c.*445G>A | NP_001341756.1:n.*445G>A | |
NM_013261.4:c.*445G>A | NP_037393.1:n.*445G>A | |
NR_148981.1:n.3369G>A | ||
NR_148982.1:n.3442G>A | ||
NR_148983.1:n.3595G>A | ||
NR_148984.1:n.2993G>A | ||
NR_148985.1:n.3507G>A | ||
NR_148986.1:n.3512G>A | ||
NR_148987.1:n.3594G>A | ||
XM_005248131.5:c.*445G>A | XP_005248188.1:n.*445G>A | |
XM_005248134.4:c.*474G>A | XP_005248191.1:n.*474G>A | |
XM_024453878.1:c.*445G>A | XP_024309646.1:n.*445G>A | |
NM_013261.5:c.*445G>A MANE Select | NP_037393.1:n.*445G>A | |
NM_001330751.2:c.*445G>A | NP_001317680.1:n.*445G>A | |
NM_001330752.2:c.*445G>A | NP_001317681.1:n.*445G>A | |
NM_001354825.2:c.*445G>A | NP_001341754.1:n.*445G>A | |
NM_001354826.2:c.*445G>A | NP_001341755.1:n.*445G>A | |
NM_001354827.2:c.*445G>A | NP_001341756.1:n.*445G>A | |
NR_148981.2:n.3445G>A | ||
NR_148982.2:n.3518G>A | ||
NR_148983.2:n.3671G>A | ||
NR_148984.2:n.2963G>A | ||
NR_148985.2:n.3583G>A | ||
NR_148986.2:n.3588G>A | ||
NR_148987.2:n.3670G>A | ||
NM_001330753.2:c.*445G>A | NP_001317682.1:n.*445G>A |