HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48464941T>C , CM000675.2:g.48464941T>C | GRCh38 |
NC_000013.10:g.49039077T>C , CM000675.1:g.49039077T>C | GRCh37 |
NC_000013.9:g.47937078T>C | NCBI36 |
NG_009009.1:g.166195T>C , LRG_517:g.166195T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000267163.6:c.2212-57T>C MANE Select | ENSP00000267163.4:n.2212-57T>C | |
ENST00000643064.1:c.194+83498T>C | ||
ENST00000650461.1:c.2212-57T>C | ENSP00000497193.1:n.2212-57T>C | |
ENST00000267163.4:c.2212-57T>C | ENSP00000267163.4:n.2212-57T>C | |
NM_000321.2:c.2212-57T>C , LRG_517t1:c.2212-57T>C | NP_000312.2:n.2212-57T>C | |
XM_011535171.1:c.1951-57T>C | XP_011533473.1:n.1951-57T>C | |
XM_011535171.2:c.1951-57T>C | XP_011533473.1:n.1951-57T>C | |
NM_000321.3:c.2212-57T>C MANE Select | NP_000312.2:n.2212-57T>C |