HGVS | Genome Assembly |
---|---|
NC_000015.10:g.23687167G>T , CM000677.2:g.23687167G>T | GRCh38 |
NC_000015.9:g.23932314G>T , CM000677.1:g.23932314G>T | GRCh37 |
NC_000015.8:g.21483407G>T | NCBI36 |
NG_009380.1:g.5137C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649030.2:c.51C>A MANE Select | ENSP00000497916.1:p.Ala17= | |
ENST00000331837.5:c.51C>A | ENSP00000332643.4:p.Ala17= | |
NM_002487.2:c.51C>A | NP_002478.1:p.Ala17= | |
NM_002487.3:c.51C>A MANE Select | NP_002478.1:p.Ala17= |