HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590722A>T , CM000679.2:g.61590722A>T | GRCh38 |
NC_000017.10:g.59668083A>T , CM000679.1:g.59668083A>T | GRCh37 |
NC_000017.9:g.57022865A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.459T>A MANE Select | ENSP00000427802.1:p.Ile153= | |
ENST00000521764.2:c.459T>A | ENSP00000427802.1:p.Ile153= | |
NM_199290.3:c.459T>A | NP_954984.1:p.Ile153= | |
NM_199290.4:c.459T>A MANE Select | NP_954984.1:p.Ile153= |