HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787586G>A , CM000681.2:g.18787586G>A | GRCh38 |
NC_000019.9:g.18898395G>A , CM000681.1:g.18898395G>A | GRCh37 |
NC_000019.8:g.18759395G>A | NCBI36 |
NG_007070.1:g.8720C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1040C>T MANE Select | ENSP00000222271.2:p.Ala347Val | |
ENST00000222271.6:c.1040C>T | ENSP00000222271.2:p.Ala347Val | |
ENST00000425807.1:c.881C>T | ENSP00000403792.1:p.Ala294Val | |
ENST00000542601.6:c.941C>T | ENSP00000439156.2:p.Ala314Val | |
NM_000095.2:c.1040C>T | NP_000086.2:p.Ala347Val | |
NM_000095.3:c.1040C>T MANE Select | NP_000086.2:p.Ala347Val |