HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35826698C>T , CM000681.2:g.35826698C>T | GRCh38 |
NC_000019.9:g.36317600C>T , CM000681.1:g.36317600C>T | GRCh37 |
NC_000019.8:g.41009440C>T | NCBI36 |
NG_013356.2:g.47590G>A , LRG_693:g.47590G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.3595-53G>A MANE Select | ENSP00000368190.4:n.3595-53G>A | |
ENST00000353632.6:c.3475-53G>A | ENSP00000343634.5:n.3475-53G>A | |
ENST00000378910.9:c.3595-53G>A | ENSP00000368190.4:n.3595-53G>A | |
NM_004646.3:c.3595-53G>A , LRG_693t1:c.3595-53G>A | NP_004637.1:n.3595-53G>A | |
NM_004646.4:c.3595-53G>A MANE Select | NP_004637.1:n.3595-53G>A |