HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52027777C>T , CM000666.2:g.52027777C>T | GRCh38 |
NC_000004.11:g.52893943C>T , CM000666.1:g.52893943C>T | GRCh37 |
NC_000004.10:g.52588700C>T | NCBI36 |
NG_008891.1:g.15543G>A , LRG_204:g.15543G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.753+191G>A MANE Select | ENSP00000370839.6:n.753+191G>A | |
ENST00000381431.9:c.753+191G>A | ENSP00000370839.5:n.753+191G>A | |
NM_000232.4:c.753+191G>A , LRG_204t1:c.753+191G>A | NP_000223.1:n.753+191G>A | |
XM_006714049.2:c.456+191G>A | XP_006714112.1:n.456+191G>A | |
XM_011534403.1:c.543+191G>A | XP_011532705.1:n.543+191G>A | |
XM_011534404.1:c.456+191G>A | XP_011532706.1:n.456+191G>A | |
NM_000232.5:c.753+191G>A MANE Select | NP_000223.1:n.753+191G>A |