HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19961801T>A , CM000670.2:g.19961801T>A | GRCh38 |
NC_000008.10:g.19819312T>A , CM000670.1:g.19819312T>A | GRCh37 |
NC_000008.9:g.19863592T>A | NCBI36 |
NG_008855.1:g.27731T>A | |
NG_008855.2:g.65085T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650287.1:c.1323-314T>A MANE Select | ENSP00000497642.1:n.1323-314T>A | |
ENST00000650478.1:c.263-314T>A | ENSP00000497560.1:n.263-314T>A | |
ENST00000311322.8:c.1323-314T>A | ENSP00000309757.6:n.1323-314T>A | |
NM_000237.2:c.1323-314T>A | NP_000228.1:n.1323-314T>A | |
NM_000237.3:c.1323-314T>A MANE Select | NP_000228.1:n.1323-314T>A |