HGVS | Genome Assembly |
---|---|
NC_000010.11:g.112174128A>G , CM000672.2:g.112174128A>G | GRCh38 |
NC_000010.10:g.113933886A>G , CM000672.1:g.113933886A>G | GRCh37 |
NC_000010.9:g.113923876A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000348367.9:c.414-283T>C MANE Select | ENSP00000265276.4:n.414-283T>C | |
ENST00000348367.8:c.414-283T>C | ENSP00000265276.4:n.414-283T>C | |
ENST00000369425.5:c.414-283T>C | ENSP00000358433.1:n.414-283T>C | |
NM_001244949.1:c.414-283T>C | NP_001231878.1:n.414-283T>C | |
NM_020918.5:c.414-283T>C | NP_065969.3:n.414-283T>C | |
XM_005269998.1:c.414-283T>C | XP_005270055.1:n.414-283T>C | |
XM_024448089.1:c.414-283T>C | XP_024303857.1:n.414-283T>C | |
NM_001244949.2:c.414-283T>C MANE Select | NP_001231878.1:n.414-283T>C | |
NM_020918.6:c.414-283T>C | NP_065969.3:n.414-283T>C |