HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30248908G>T , CM000679.2:g.30248908G>T | GRCh38 |
NC_000017.10:g.28575926G>T , CM000679.1:g.28575926G>T | GRCh37 |
NC_000017.9:g.25600052G>T | NCBI36 |
NG_011440.1:g.48149C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261714.11:c.*109C>A MANE Select | ENSP00000261714.6:n.*109C>A | |
ENST00000261714.10:c.*109C>A | ENSP00000261714.6:n.*109C>A | |
ENST00000578090.5:c.*1151C>A | ENSP00000462353.1:n.*1151C>A | |
ENST00000578795.1:n.1376C>A | ||
NM_000386.3:c.*109C>A | NP_000377.1:n.*109C>A | |
XR_934653.1:n.701-879G>T | ||
XR_934655.1:n.701-3166G>T | ||
NM_000386.4:c.*109C>A MANE Select | NP_000377.1:n.*109C>A |