HGVS | Genome Assembly |
---|---|
NC_000012.12:g.51912147T>C , CM000674.2:g.51912147T>C | GRCh38 |
NC_000012.11:g.52305931T>C , CM000674.1:g.52305931T>C | GRCh37 |
NC_000012.10:g.50592198T>C | NCBI36 |
NG_009549.1:g.9730T>C , LRG_543:g.9730T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000551576.6:c.-5-323T>C | ENSP00000455848.2:n.-5-323T>C | |
ENST00000552678.2:c.-5-323T>C | ENSP00000457394.2:n.-5-323T>C | |
ENST00000388922.9:c.-5-323T>C MANE Select | ENSP00000373574.4:n.-5-323T>C | |
ENST00000388922.8:c.-5-323T>C | ENSP00000373574.4:n.-5-323T>C | |
ENST00000551576.5:c.-5-323T>C | ENSP00000455848.1:n.-5-323T>C | |
NM_000020.2:c.-5-323T>C , LRG_543t1:c.-5-323T>C | NP_000011.2:n.-5-323T>C | |
XM_005269235.2:c.-5-323T>C | XP_005269292.1:n.-5-323T>C | |
NM_000020.3:c.-5-323T>C MANE Select | NP_000011.2:n.-5-323T>C |