HGVS | Genome Assembly |
---|---|
NC_000008.11:g.40015416T>A , CM000670.2:g.40015416T>A | GRCh38 |
NC_000008.10:g.39872935T>A , CM000670.1:g.39872935T>A | GRCh37 |
NC_000008.9:g.39992092T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502986.4:c.1038T>A MANE Select | ENSP00000443432.2:p.Tyr346Ter | |
ENST00000502986.3:c.1038T>A | ENSP00000443432.2:p.Tyr346Ter | |
ENST00000343295.8:n.3289T>A | ||
ENST00000389060.8:c.1038T>A | ENSP00000426447.1:p.Tyr346Ter | |
ENST00000418094.1:n.665T>A | ||
ENST00000502986.2:c.1077T>A | ENSP00000443432.1:p.Tyr359Ter | |
NM_194294.2:c.1077T>A | NP_919270.2:p.Tyr359Ter | |
NM_194294.3:c.1077T>A | NP_919270.2:p.Tyr359Ter | |
NM_001395206.1:c.1038T>A | NP_001382135.1:p.Tyr346Ter | |
NM_194294.5:c.1038T>A MANE Select | NP_919270.3:p.Tyr346Ter |