HGVS | Genome Assembly |
---|---|
NC_000016.10:g.55810697G>T , CM000678.2:g.55810697G>T | GRCh38 |
NC_000016.9:g.55844609G>T , CM000678.1:g.55844609G>T | GRCh37 |
NC_000016.8:g.54402110G>T | NCBI36 |
NG_012057.1:g.27467C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360526.8:c.1171-33C>A MANE Select | ENSP00000353720.4:n.1171-33C>A | |
ENST00000360526.7:c.1171-33C>A | ENSP00000353720.3:n.1171-33C>A | |
ENST00000361503.8:c.1168-33C>A | ENSP00000355193.4:n.1168-33C>A | |
ENST00000422046.6:c.1165-33C>A | ENSP00000390492.2:n.1165-33C>A | |
ENST00000565568.1:c.72+2206C>A | ENSP00000455902.1:n.72+2206C>A | |
ENST00000569260.1:c.406-33C>A | ||
NM_001025194.1:c.1168-33C>A | NP_001020365.1:n.1168-33C>A | |
NM_001025195.1:c.1171-33C>A | NP_001020366.1:n.1171-33C>A | |
NM_001266.4:c.1165-33C>A | NP_001257.4:n.1165-33C>A | |
XM_005255774.1:c.1168-33C>A | XP_005255831.1:n.1168-33C>A | |
XM_005255774.2:c.1168-33C>A | XP_005255831.1:n.1168-33C>A | |
NM_001025194.2:c.1168-33C>A | NP_001020365.1:n.1168-33C>A | |
NM_001025195.2:c.1171-33C>A MANE Select | NP_001020366.1:n.1171-33C>A | |
NM_001266.5:c.1165-33C>A | NP_001257.4:n.1165-33C>A |