HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30249001G>T , CM000679.2:g.30249001G>T | GRCh38 |
NC_000017.10:g.28576019G>T , CM000679.1:g.28576019G>T | GRCh37 |
NC_000017.9:g.25600145G>T | NCBI36 |
NG_011440.1:g.48056C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261714.11:c.*16C>A MANE Select | ENSP00000261714.6:n.*16C>A | |
ENST00000261714.10:c.*16C>A | ENSP00000261714.6:n.*16C>A | |
ENST00000578090.5:c.*1058C>A | ENSP00000462353.1:n.*1058C>A | |
ENST00000578795.1:n.1283C>A | ||
NM_000386.3:c.*16C>A | NP_000377.1:n.*16C>A | |
XR_934653.1:n.701-786G>T | ||
XR_934655.1:n.701-3073G>T | ||
NM_000386.4:c.*16C>A MANE Select | NP_000377.1:n.*16C>A |