HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590770T>A , CM000679.2:g.61590770T>A | GRCh38 |
NC_000017.10:g.59668131T>A , CM000679.1:g.59668131T>A | GRCh37 |
NC_000017.9:g.57022913T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.411A>T MANE Select | ENSP00000427802.1:p.Leu137= | |
ENST00000521764.2:c.411A>T | ENSP00000427802.1:p.Leu137= | |
NM_199290.3:c.411A>T | NP_954984.1:p.Leu137= | |
NM_199290.4:c.411A>T MANE Select | NP_954984.1:p.Leu137= |