HGVS | Genome Assembly |
---|---|
NC_000003.12:g.126510619T>A , CM000665.2:g.126510619T>A | GRCh38 |
NC_000003.11:g.126229462T>A , CM000665.1:g.126229462T>A | GRCh37 |
NC_000003.10:g.127712152T>A | NCBI36 |
NG_016286.1:g.12133A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290868.7:c.257+45A>T MANE Select | ENSP00000290868.2:n.257+45A>T | |
ENST00000290868.6:c.257+45A>T | ENSP00000290868.2:n.257+45A>T | |
ENST00000383579.3:c.257+45A>T | ENSP00000373073.3:n.257+45A>T | |
NM_001165974.1:c.257+45A>T | NP_001159446.1:n.257+45A>T | |
NM_144639.2:c.257+45A>T | NP_653240.1:n.257+45A>T | |
NM_144639.3:c.257+45A>T MANE Select | NP_653240.1:n.257+45A>T | |
NM_001165974.2:c.257+45A>T | NP_001159446.1:n.257+45A>T |