HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038160G>A , CM000666.2:g.52038160G>A | GRCh38 |
NC_000004.11:g.52904326G>A , CM000666.1:g.52904326G>A | GRCh37 |
NC_000004.10:g.52599083G>A | NCBI36 |
NG_008891.1:g.5160C>T , LRG_204:g.5160C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.33+67C>T MANE Select | ENSP00000370839.6:n.33+67C>T | |
ENST00000381431.9:c.33+67C>T | ENSP00000370839.5:n.33+67C>T | |
ENST00000506357.5:c.19+67C>T | ||
NM_000232.4:c.33+67C>T , LRG_204t1:c.33+67C>T | NP_000223.1:n.33+67C>T | |
XM_011534403.1:c.33+67C>T | XP_011532705.1:n.33+67C>T | |
NM_000232.5:c.33+67C>T MANE Select | NP_000223.1:n.33+67C>T |