HGVS | Genome Assembly |
---|---|
NC_000005.10:g.76968529G>C , CM000667.2:g.76968529G>C | GRCh38 |
NC_000005.9:g.76264354G>C , CM000667.1:g.76264354G>C | GRCh37 |
NC_000005.8:g.76300110G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274368.9:c.812-199G>C MANE Select | ENSP00000274368.4:n.812-199G>C | |
ENST00000274368.8:c.812-199G>C | ENSP00000274368.4:n.812-199G>C | |
ENST00000503763.1:n.227-199G>C | ||
ENST00000514258.1:n.311+5069G>C | ||
NM_001882.3:c.812-199G>C | NP_001873.2:n.812-199G>C | |
XR_948235.1:n.1111+5069G>C | ||
XR_948235.3:n.1091+5069G>C | ||
NM_001882.4:c.812-199G>C MANE Select | NP_001873.2:n.812-199G>C |