HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48464943A>T , CM000675.2:g.48464943A>T | GRCh38 |
NC_000013.10:g.49039079A>T , CM000675.1:g.49039079A>T | GRCh37 |
NC_000013.9:g.47937080A>T | NCBI36 |
NG_009009.1:g.166197A>T , LRG_517:g.166197A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.2212-55A>T MANE Select | ENSP00000267163.4:n.2212-55A>T | |
ENST00000643064.1:c.194+83500A>T | ||
ENST00000650461.1:c.2212-55A>T | ENSP00000497193.1:n.2212-55A>T | |
ENST00000267163.4:c.2212-55A>T | ENSP00000267163.4:n.2212-55A>T | |
NM_000321.2:c.2212-55A>T , LRG_517t1:c.2212-55A>T | NP_000312.2:n.2212-55A>T | |
XM_011535171.1:c.1951-55A>T | XP_011533473.1:n.1951-55A>T | |
XM_011535171.2:c.1951-55A>T | XP_011533473.1:n.1951-55A>T | |
NM_000321.3:c.2212-55A>T MANE Select | NP_000312.2:n.2212-55A>T |