HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37734378A>T , CM000684.2:g.37734378A>T | GRCh38 |
NC_000022.10:g.38130385A>T , CM000684.1:g.38130385A>T | GRCh37 |
NC_000022.9:g.36460331A>T | NCBI36 |
NG_012857.1:g.42391A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.4063-21A>T MANE Select | ENSP00000496394.1:n.4063-21A>T | |
ENST00000344404.10:c.*3546-21A>T | ENSP00000340312.6:n.*3546-21A>T | |
ENST00000406386.7:c.4063-21A>T | ENSP00000384312.3:n.4063-21A>T | |
NM_001039141.2:c.4063-21A>T | NP_001034230.1:n.4063-21A>T | |
XM_011530646.1:c.512-4019T>A | XP_011528948.1:n.512-4019T>A | |
NM_001039141.3:c.4063-21A>T MANE Select | NP_001034230.1:n.4063-21A>T |