HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52029684G>A , CM000666.2:g.52029684G>A | GRCh38 |
NC_000004.11:g.52895850G>A , CM000666.1:g.52895850G>A | GRCh37 |
NC_000004.10:g.52590607G>A | NCBI36 |
NG_008891.1:g.13636C>T , LRG_204:g.13636C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.423C>T MANE Select | ENSP00000370839.6:p.Asn141= | |
ENST00000381431.9:c.423C>T | ENSP00000370839.5:p.Asn141= | |
ENST00000506357.5:c.506C>T | ||
ENST00000514133.1:c.500C>T | ENSP00000425818.1:n.500C>T | |
NM_000232.4:c.423C>T , LRG_204t1:c.423C>T | NP_000223.1:p.Asn141= | |
XM_006714049.2:c.126C>T | XP_006714112.1:p.Asn42= | |
XM_011534403.1:c.213C>T | XP_011532705.1:p.Asn71= | |
XM_011534404.1:c.126C>T | XP_011532706.1:p.Asn42= | |
NM_000232.5:c.423C>T MANE Select | NP_000223.1:p.Asn141= |