HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85546956T>A , CM000664.2:g.85546956T>A | GRCh38 |
NC_000002.11:g.85774079T>A , CM000664.1:g.85774079T>A | GRCh37 |
NC_000002.10:g.85627590T>A | NCBI36 |
NG_011811.2:g.19579A>T | |
NG_029183.1:g.12979T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233838.9:c.*2978A>T MANE Select | ENSP00000233838.3:n.*2978A>T | |
ENST00000233838.8:c.*2978A>T | ENSP00000233838.3:n.*2978A>T | |
NM_000821.5:c.*2978A>T | NP_000812.2:n.*2978A>T | |
NM_000821.6:c.*2978A>T | NP_000812.2:n.*2978A>T | |
NM_001142269.2:c.*2978A>T | NP_001135741.1:n.*2978A>T | |
NM_001142269.3:c.*2978A>T | NP_001135741.1:n.*2978A>T | |
NM_000821.7:c.*2978A>T MANE Select | NP_000812.2:n.*2978A>T | |
NM_001142269.4:c.*2978A>T | NP_001135741.1:n.*2978A>T |