HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060540G>T , CM000663.2:g.94060540G>T | GRCh38 |
NC_000001.10:g.94526096G>T , CM000663.1:g.94526096G>T | GRCh37 |
NC_000001.9:g.94298684G>T | NCBI36 |
NG_009073.1:g.65610C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2157C>A MANE Select | ENSP00000359245.3:p.Ile719= | |
ENST00000649773.1:c.2157C>A | ENSP00000496882.1:p.Ile719= | |
ENST00000370225.3:c.2157C>A | ENSP00000359245.3:p.Ile719= | |
ENST00000472033.1:n.277C>A | ||
ENST00000536513.5:c.-65+2634C>A | ENSP00000439707.2:n.-65+2634C>A | |
NM_000350.2:c.2157C>A | NP_000341.2:p.Ile719= | |
NM_000350.3:c.2157C>A MANE Select | NP_000341.2:p.Ile719= |