HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19955547A>T , CM000670.2:g.19955547A>T | GRCh38 |
NC_000008.10:g.19813058A>T , CM000670.1:g.19813058A>T | GRCh37 |
NC_000008.9:g.19857338A>T | NCBI36 |
NG_008855.1:g.21477A>T | |
NG_008855.2:g.58831A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.776-294A>T MANE Select | ENSP00000497642.1:n.776-294A>T | |
ENST00000311322.8:c.776-294A>T | ENSP00000309757.6:n.776-294A>T | |
NM_000237.2:c.776-294A>T | NP_000228.1:n.776-294A>T | |
NM_000237.3:c.776-294A>T MANE Select | NP_000228.1:n.776-294A>T |