HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46118343T>C , CM000682.2:g.46118343T>C | GRCh38 |
NC_000020.10:g.44746982T>C , CM000682.1:g.44746982T>C | GRCh37 |
NC_000020.9:g.44180389T>C | NCBI36 |
NG_007279.1:g.5077T>C , LRG_40:g.5077T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695669.1:n.73T>C | ||
ENST00000695670.1:n.59T>C | ||
ENST00000695671.1:c.-1T>C | ENSP00000512093.1:n.-1T>C | |
ENST00000695672.1:n.4T>C | ||
ENST00000372285.8:c.-1T>C MANE Select | ENSP00000361359.3:n.-1T>C | |
ENST00000372276.7:c.-1T>C | ENSP00000361350.3:n.-1T>C | |
ENST00000372285.7:c.-1T>C | ENSP00000361359.3:n.-1T>C | |
ENST00000620709.4:c.-1T>C | ENSP00000484074.1:n.-1T>C | |
NM_001250.5:c.-1T>C | NP_001241.1:n.-1T>C | |
NM_001302753.1:c.-1T>C | NP_001289682.1:n.-1T>C | |
NM_152854.3:c.-1T>C | NP_690593.1:n.-1T>C | |
NR_126502.1:n.90T>C | ||
XM_005260617.2:c.-1T>C | XP_005260674.1:n.-1T>C | |
XM_005260619.2:c.-1T>C | XP_005260676.1:n.-1T>C | |
XM_011529109.1:c.-1T>C | XP_011527411.1:n.-1T>C | |
XR_936660.1:n.94T>C | ||
NM_001322421.1:c.-1T>C | NP_001309350.1:n.-1T>C | |
NM_001322422.1:c.-1T>C | NP_001309351.1:n.-1T>C | |
NM_001362758.1:c.-1T>C | NP_001349687.1:n.-1T>C | |
NR_136327.1:n.90T>C | ||
XM_005260619.3:c.-1T>C | XP_005260676.1:n.-1T>C | |
XM_011529109.2:c.-1T>C | XP_011527411.1:n.-1T>C | |
XM_017028135.1:c.-1T>C | XP_016883624.1:n.-1T>C | |
XM_017028136.1:c.-1T>C | XP_016883625.1:n.-1T>C | |
NM_001250.6:c.-1T>C MANE Select | NP_001241.1:n.-1T>C | |
NM_001302753.2:c.-1T>C | NP_001289682.1:n.-1T>C | |
NM_001322421.2:c.-1T>C | NP_001309350.1:n.-1T>C | |
NM_001322422.2:c.-1T>C | NP_001309351.1:n.-1T>C | |
NM_001362758.2:c.-1T>C | NP_001349687.1:n.-1T>C | |
NM_152854.4:c.-1T>C | NP_690593.1:n.-1T>C | |
NR_126502.2:n.30T>C | ||
NR_136327.2:n.30T>C |