HGVS | Genome Assembly |
---|---|
NC_000010.11:g.125823221G>T , CM000672.2:g.125823221G>T | GRCh38 |
NC_000010.10:g.127511790G>T , CM000672.1:g.127511790G>T | GRCh37 |
NC_000010.9:g.127501780G>T | NCBI36 |
NG_011557.1:g.5048C>A | |
NG_029095.1:g.4687G>T | |
NG_011557.2:g.5048C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713579.1:c.-219C>A | ENSP00000518871.1:n.-219C>A | |
ENST00000368797.10:c.-219C>A MANE Select | ENSP00000357787.4:n.-219C>A | |
ENST00000368797.8:c.-219C>A | ENSP00000357787.4:n.-219C>A | |
ENST00000420761.5:c.-219C>A | ENSP00000414833.1:n.-219C>A | |
NM_000375.2:c.-219C>A | NP_000366.1:n.-219C>A | |
XM_006717960.2:c.-41C>A | XP_006718023.1:n.-41C>A | |
NM_000375.3:c.-219C>A MANE Select | NP_000366.1:n.-219C>A | |
NM_001324036.1:c.-219C>A | NP_001310965.1:n.-219C>A | |
NM_001324037.1:c.-219C>A | NP_001310966.1:n.-219C>A | |
NM_001324038.1:c.-219C>A | NP_001310967.1:n.-219C>A | |
NM_001324039.1:c.-219C>A | NP_001310968.1:n.-219C>A | |
NR_136675.1:n.48C>A | ||
NR_136676.1:n.48C>A | ||
NR_136677.1:n.48C>A | ||
NR_136678.1:n.48C>A | ||
XM_017016611.2:c.-41C>A | XP_016872100.2:n.-41C>A | |
XM_024448154.1:c.-41C>A | XP_024303922.1:n.-41C>A | |
XM_024448155.1:c.-219C>A | XP_024303923.1:n.-219C>A | |
XR_002957010.1:n.24C>A | ||
NM_001324036.2:c.-219C>A | NP_001310965.1:n.-219C>A | |
NM_001324037.2:c.-219C>A | NP_001310966.1:n.-219C>A | |
NM_001324038.2:c.-219C>A | NP_001310967.1:n.-219C>A | |
NR_136675.2:n.38C>A | ||
NR_136676.2:n.38C>A | ||
NR_136678.2:n.38C>A | ||
NM_001324039.2:c.-219C>A | NP_001310968.1:n.-219C>A | |
NR_136677.2:n.38C>A |