HGVS | Genome Assembly |
---|---|
NC_000021.9:g.39777594T>G , CM000683.2:g.39777594T>G | GRCh38 |
NC_000021.8:g.41149521T>G , CM000683.1:g.41149521T>G | GRCh37 |
NC_000021.7:g.40071391T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380588.5:c.719-1496T>G MANE Select | ENSP00000369962.4:n.719-1496T>G | |
ENST00000380588.4:c.719-1496T>G | ENSP00000369962.4:n.719-1496T>G | |
ENST00000479378.1:n.825-1496T>G | ||
NM_001080444.1:c.719-1496T>G | NP_001073913.1:n.719-1496T>G | |
XM_011529472.1:c.989-1496T>G | XP_011527774.1:n.989-1496T>G | |
XM_011529473.1:c.989-1496T>G | XP_011527775.1:n.989-1496T>G | |
XM_011529472.2:c.989-1496T>G | XP_011527774.1:n.989-1496T>G | |
NM_001080444.2:c.719-1496T>G MANE Select | NP_001073913.1:n.719-1496T>G |