HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5488150G>T , CM000674.2:g.5488150G>T | GRCh38 |
NC_000012.11:g.5597316G>T , CM000674.1:g.5597316G>T | GRCh37 |
NC_000012.10:g.5467577G>T | NCBI36 |
NG_050629.1:g.61037G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000423158.4:c.19-6044G>T MANE Select | ENSP00000397297.2:n.19-6044G>T | |
ENST00000423158.3:c.19-6044G>T | ENSP00000397297.2:n.19-6044G>T | |
ENST00000535299.5:n.232-18415G>T | ||
ENST00000543548.1:n.209-6044G>T | ||
NM_001102654.1:c.19-6044G>T | NP_001096124.1:n.19-6044G>T | |
XM_011520963.1:c.-21-6044G>T | XP_011519265.1:n.-21-6044G>T | |
XM_011520963.2:c.-21-6044G>T | XP_011519265.1:n.-21-6044G>T | |
NM_001102654.2:c.19-6044G>T MANE Select | NP_001096124.1:n.19-6044G>T |