HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884770T= , CM000680.2:g.13884770T= | GRCh38 |
NC_000018.9:g.13884769T= , CM000680.1:g.13884769T= | GRCh37 |
NC_000018.8:g.13874769T= | NCBI36 |
NG_011819.1:g.35767A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327606.4:c.749A= MANE Select | ENSP00000333821.2:p.Tyr250= | |
ENST00000327606.3:c.749A= | ENSP00000333821.2:p.Tyr250= | |
NM_000529.2:c.749A= MANE Select | NP_000520.1:p.Tyr250= | |
NM_001291911.1:c.749A= | NP_001278840.1:p.Tyr250= | |
XM_017025781.1:c.749A= | XP_016881270.1:p.Tyr250= |