HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215781991T>A , CM000663.2:g.215781991T>A | GRCh38 |
NC_000001.10:g.215955333T>A , CM000663.1:g.215955333T>A | GRCh37 |
NC_000001.9:g.214021956T>A | NCBI36 |
NG_009497.1:g.646406A>T | |
NG_009497.2:g.646458A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307340.8:c.10740+51A>T MANE Select | ENSP00000305941.3:n.10740+51A>T | |
ENST00000674083.1:c.10740+51A>T | ENSP00000501296.1:n.10740+51A>T | |
ENST00000307340.7:c.10740+51A>T | ENSP00000305941.3:n.10740+51A>T | |
NM_206933.2:c.10740+51A>T | NP_996816.2:n.10740+51A>T | |
NM_206933.3:c.10740+51A>T | NP_996816.2:n.10740+51A>T | |
NM_206933.4:c.10740+51A>T MANE Select | NP_996816.3:n.10740+51A>T |