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