HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94047208G>A , CM000663.2:g.94047208G>A | GRCh38 |
NC_000001.10:g.94512764G>A , CM000663.1:g.94512764G>A | GRCh37 |
NC_000001.9:g.94285352G>A | NCBI36 |
NG_009073.1:g.78942C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2744-115C>T MANE Select | ENSP00000359245.3:n.2744-115C>T | |
ENST00000649773.1:c.2522-115C>T | ENSP00000496882.1:n.2522-115C>T | |
ENST00000370225.3:c.2744-115C>T | ENSP00000359245.3:n.2744-115C>T | |
ENST00000536513.5:c.-64-7119C>T | ENSP00000439707.2:n.-64-7119C>T | |
NM_000350.2:c.2744-115C>T | NP_000341.2:n.2744-115C>T | |
NM_000350.3:c.2744-115C>T MANE Select | NP_000341.2:n.2744-115C>T |