HGVS | Genome Assembly |
---|---|
NC_000001.11:g.196996127A>C , CM000663.2:g.196996127A>C | GRCh38 |
NC_000001.10:g.196965257A>C , CM000663.1:g.196965257A>C | GRCh37 |
NC_000001.9:g.195231880A>C | NCBI36 |
NG_016365.1:g.23591A>C , LRG_227:g.23591A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000699466.1:c.641A>C | ENSP00000514393.1:p.Asn214Thr | |
ENST00000699467.1:n.965A>C | ||
ENST00000699468.1:c.-11A>C | ENSP00000514394.1:n.-11A>C | |
ENST00000256785.5:c.896A>C MANE Select | ENSP00000256785.4:p.Asn299Thr | |
ENST00000256785.4:c.896A>C | ENSP00000256785.4:p.Asn299Thr | |
NM_030787.3:c.896A>C , LRG_227t1:c.896A>C | NP_110414.1:p.Asn299Thr | |
XM_011510020.1:c.905A>C | XP_011508322.1:p.Asn302Thr | |
XM_011510020.2:c.905A>C | XP_011508322.1:p.Asn302Thr | |
NM_030787.4:c.896A>C MANE Select | NP_110414.1:p.Asn299Thr |