HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160037776T>A , CM000663.2:g.160037776T>A | GRCh38 |
NC_000001.10:g.160007566T>A , CM000663.1:g.160007566T>A | GRCh37 |
NC_000001.9:g.158274190T>A | NCBI36 |
NG_016411.1:g.37396A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000509700.2:c.671+4058A>T | ||
ENST00000637644.1:c.487+4270A>T | ENSP00000490282.1:n.487+4270A>T | |
ENST00000639408.1:c.587+2726A>T | ENSP00000491635.1:n.587+2726A>T | |
ENST00000640914.1:c.224+2726A>T | ||
ENST00000644903.1:c.*3617A>T MANE Select | ENSP00000495557.1:n.*3617A>T | |
ENST00000368089.3:c.*3617A>T | ENSP00000357068.3:n.*3617A>T | |
NM_002241.4:c.*3617A>T | NP_002232.2:n.*3617A>T | |
NM_002241.5:c.*3617A>T MANE Select | NP_002232.2:n.*3617A>T |