HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1416131G>T , CM000667.2:g.1416131G>T | GRCh38 |
NC_000005.9:g.1416246G>T , CM000667.1:g.1416246G>T | GRCh37 |
NC_000005.8:g.1469246G>T | NCBI36 |
NG_015885.1:g.34298C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.998C>A MANE Select | ENSP00000270349.9:p.Ser333Tyr | |
ENST00000270349.11:c.998C>A | ENSP00000270349.9:p.Ser333Tyr | |
ENST00000511750.1:n.448C>A | ||
NM_001044.4:c.998C>A | NP_001035.1:p.Ser333Tyr | |
NM_001044.5:c.998C>A MANE Select | NP_001035.1:p.Ser333Tyr |