HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029680G>T , CM000666.2:g.52029680G>T | GRCh38 |
NC_000004.11:g.52895846G>T , CM000666.1:g.52895846G>T | GRCh37 |
NC_000004.10:g.52590603G>T | NCBI36 |
NG_008891.1:g.13640C>A , LRG_204:g.13640C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.427C>A MANE Select | ENSP00000370839.6:p.Pro143Thr | |
ENST00000381431.9:c.427C>A | ENSP00000370839.5:p.Pro143Thr | |
ENST00000506357.5:c.510C>A | ||
ENST00000514133.1:c.504C>A | ENSP00000425818.1:n.504C>A | |
NM_000232.4:c.427C>A , LRG_204t1:c.427C>A | NP_000223.1:p.Pro143Thr | |
XM_006714049.2:c.130C>A | XP_006714112.1:p.Pro44Thr | |
XM_011534403.1:c.217C>A | XP_011532705.1:p.Pro73Thr | |
XM_011534404.1:c.130C>A | XP_011532706.1:p.Pro44Thr | |
NM_000232.5:c.427C>A MANE Select | NP_000223.1:p.Pro143Thr |