HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35850291G>T , CM000681.2:g.35850291G>T | GRCh38 |
NC_000019.9:g.36341193G>T , CM000681.1:g.36341193G>T | GRCh37 |
NC_000019.8:g.41033033G>T | NCBI36 |
NG_013356.2:g.23997C>A , LRG_693:g.23997C>A | |
NG_051206.1:g.3657G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378910.10:c.608+73C>A MANE Select | ENSP00000368190.4:n.608+73C>A | |
ENST00000353632.6:c.608+73C>A | ENSP00000343634.5:n.608+73C>A | |
ENST00000378910.9:c.608+73C>A | ENSP00000368190.4:n.608+73C>A | |
NM_004646.3:c.608+73C>A , LRG_693t1:c.608+73C>A | NP_004637.1:n.608+73C>A | |
NM_004646.4:c.608+73C>A MANE Select | NP_004637.1:n.608+73C>A |