HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85547900G>T , CM000664.2:g.85547900G>T | GRCh38 |
NC_000002.11:g.85775023G>T , CM000664.1:g.85775023G>T | GRCh37 |
NC_000002.10:g.85628534G>T | NCBI36 |
NG_011811.2:g.18635C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000233838.9:c.*2034C>A MANE Select | ENSP00000233838.3:n.*2034C>A | |
ENST00000233838.8:c.*2034C>A | ENSP00000233838.3:n.*2034C>A | |
ENST00000465637.5:n.283C>A | ||
NM_000821.5:c.*2034C>A | NP_000812.2:n.*2034C>A | |
NM_000821.6:c.*2034C>A | NP_000812.2:n.*2034C>A | |
NM_001142269.2:c.*2034C>A | NP_001135741.1:n.*2034C>A | |
NM_001142269.3:c.*2034C>A | NP_001135741.1:n.*2034C>A | |
NM_000821.7:c.*2034C>A MANE Select | NP_000812.2:n.*2034C>A | |
NM_001142269.4:c.*2034C>A | NP_001135741.1:n.*2034C>A |