HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33772248C>T , CM000668.2:g.33772248C>T | GRCh38 |
NC_000006.11:g.33740025C>T , CM000668.1:g.33740025C>T | GRCh37 |
NC_000006.10:g.33848003C>T | NCBI36 |
NG_053042.1:g.27027G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293760.10:c.*380G>A MANE Select | ENSP00000293760.5:n.*380G>A | |
ENST00000293760.9:c.*380G>A | ENSP00000293760.5:n.*380G>A | |
ENST00000421671.6:c.*1153G>A | ENSP00000398733.2:n.*1153G>A | |
ENST00000506578.5:c.638G>A | ENSP00000423715.1:n.638G>A | |
ENST00000511171.5:n.3844G>A | ||
ENST00000614475.4:c.*380G>A | ENSP00000478539.1:n.*380G>A | |
NM_001143944.1:c.*380G>A | NP_001137416.1:n.*380G>A | |
NM_181336.3:c.*380G>A | NP_851853.1:n.*380G>A | |
NM_001348709.1:c.*380G>A | NP_001335638.1:n.*380G>A | |
NM_001348710.1:c.*380G>A | NP_001335639.1:n.*380G>A | |
NM_181336.4:c.*380G>A MANE Select | NP_851853.1:n.*380G>A | |
NM_001348709.2:c.*380G>A | NP_001335638.1:n.*380G>A | |
NM_001348710.2:c.*380G>A | NP_001335639.1:n.*380G>A |