HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590490C>T , CM000679.2:g.61590490C>T | GRCh38 |
NC_000017.10:g.59667851C>T , CM000679.1:g.59667851C>T | GRCh37 |
NC_000017.9:g.57022633C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.*43G>A MANE Select | ENSP00000427802.1:n.*43G>A | |
ENST00000521764.2:c.*43G>A | ENSP00000427802.1:n.*43G>A | |
NM_199290.3:c.*43G>A | NP_954984.1:n.*43G>A | |
NM_199290.4:c.*43G>A MANE Select | NP_954984.1:n.*43G>A |