HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157198268T>C , CM000667.2:g.157198268T>C | GRCh38 |
NC_000005.9:g.156625279T>C , CM000667.1:g.156625279T>C | GRCh37 |
NC_000005.8:g.156557857T>C | NCBI36 |
NG_016276.1:g.22373T>C , LRG_189:g.22373T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696962.1:c.139-10621T>C | ENSP00000513001.1:n.139-10621T>C | |
ENST00000422843.8:c.139-10621T>C MANE Select | ENSP00000398655.4:n.139-10621T>C | |
ENST00000422843.7:c.139-10621T>C | ENSP00000398655.3:n.139-10621T>C | |
ENST00000517779.1:c.139-10621T>C | ENSP00000431054.1:n.139-10621T>C | |
ENST00000519402.5:n.274-10621T>C | ||
ENST00000520555.5:n.277-10621T>C | ||
ENST00000521769.5:c.-237-10621T>C | ENSP00000430327.1:n.-237-10621T>C | |
NM_005546.3:c.139-10621T>C , LRG_189t1:c.139-10621T>C | NP_005537.3:n.139-10621T>C | |
NM_005546.4:c.139-10621T>C MANE Select | NP_005537.3:n.139-10621T>C |