HGVS | Genome Assembly |
---|---|
NC_000005.10:g.141626120A>G , CM000667.2:g.141626120A>G | GRCh38 |
NC_000005.9:g.141005687A>G , CM000667.1:g.141005687A>G | GRCh37 |
NC_000005.8:g.140985871A>G | NCBI36 |
NG_029678.1:g.15737T>C | |
NG_029678.2:g.15737T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305264.8:c.921-49T>C MANE Select | ENSP00000302967.3:n.921-49T>C | |
ENST00000305264.7:c.921-49T>C | ENSP00000302967.3:n.921-49T>C | |
ENST00000459727.5:n.233+74T>C | ||
ENST00000467533.5:n.599+74T>C | ||
ENST00000469550.6:n.994-49T>C | ||
ENST00000475549.1:n.252-49T>C | ||
ENST00000486618.1:n.366T>C | ||
ENST00000491581.5:n.135-49T>C | ||
ENST00000492407.1:n.767+74T>C | ||
NM_003883.3:c.921-49T>C | NP_003874.2:n.921-49T>C | |
XM_011537697.1:c.360-49T>C | XP_011535999.1:n.360-49T>C | |
XR_944336.1:n.1006-49T>C | ||
NM_001355039.1:c.921-49T>C | NP_001341968.1:n.921-49T>C | |
NM_001355040.1:c.462-49T>C | NP_001341969.1:n.462-49T>C | |
NM_001355041.1:c.360-49T>C | NP_001341970.1:n.360-49T>C | |
NR_149164.1:n.987-49T>C | ||
NR_149165.1:n.869-49T>C | ||
NR_149166.1:n.843+74T>C | ||
NR_149167.1:n.1011+74T>C | ||
NR_149168.1:n.1012-49T>C | ||
NR_149169.1:n.1012-49T>C | ||
NM_003883.4:c.921-49T>C MANE Select | NP_003874.2:n.921-49T>C | |
NM_001355039.2:c.921-49T>C | NP_001341968.1:n.921-49T>C | |
NR_149167.2:n.1004+74T>C | ||
NM_001355040.2:c.462-49T>C | NP_001341969.1:n.462-49T>C | |
NM_001355041.2:c.360-49T>C | NP_001341970.1:n.360-49T>C | |
NR_149164.2:n.980-49T>C | ||
NR_149165.2:n.862-49T>C | ||
NR_149166.2:n.836+74T>C | ||
NR_149168.2:n.1005-49T>C | ||
NR_149169.2:n.1005-49T>C |