HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50130497T>A , CM000676.2:g.50130497T>A | GRCh38 |
NC_000014.8:g.50597215T>A , CM000676.1:g.50597215T>A | GRCh37 |
NC_000014.7:g.49666965T>A | NCBI36 |
NG_051073.1:g.106197A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216373.10:c.3337+4A>T MANE Select | ENSP00000216373.5:n.3337+4A>T | |
ENST00000216373.9:c.3337+4A>T | ENSP00000216373.5:n.3337+4A>T | |
ENST00000543680.5:c.3238+4A>T | ENSP00000445328.1:n.3238+4A>T | |
NM_006939.2:c.3337+4A>T | NP_008870.2:n.3337+4A>T | |
XM_005268021.1:c.3157+4A>T | XP_005268078.1:n.3157+4A>T | |
XM_011537103.1:c.3298+4A>T | XP_011535405.1:n.3298+4A>T | |
NM_006939.3:c.3337+4A>T | NP_008870.2:n.3337+4A>T | |
NM_006939.4:c.3337+4A>T MANE Select | NP_008870.2:n.3337+4A>T |