HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52028035T>G , CM000666.2:g.52028035T>G | GRCh38 |
NC_000004.11:g.52894201T>G , CM000666.1:g.52894201T>G | GRCh37 |
NC_000004.10:g.52588958T>G | NCBI36 |
NG_008891.1:g.15285A>C , LRG_204:g.15285A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000381431.10:c.686A>C MANE Select | ENSP00000370839.6:p.Asn229Thr | |
ENST00000381431.9:c.686A>C | ENSP00000370839.5:p.Asn229Thr | |
NM_000232.4:c.686A>C , LRG_204t1:c.686A>C | NP_000223.1:p.Asn229Thr | |
XM_006714049.2:c.389A>C | XP_006714112.1:p.Asn130Thr | |
XM_011534403.1:c.476A>C | XP_011532705.1:p.Asn159Thr | |
XM_011534404.1:c.389A>C | XP_011532706.1:p.Asn130Thr | |
NM_000232.5:c.686A>C MANE Select | NP_000223.1:p.Asn229Thr |