HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80153805C>T , CM000672.2:g.80153805C>T | GRCh38 |
NC_000010.10:g.81913561C>T , CM000672.1:g.81913561C>T | GRCh37 |
NC_000010.9:g.81903541C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000422982.8:c.*2048G>A MANE Select | ENSP00000404412.2:n.*2048G>A | |
ENST00000372231.7:c.*2048G>A | ENSP00000361305.3:n.*2048G>A | |
ENST00000438331.5:c.*2048G>A | ENSP00000398610.1:n.*2048G>A | |
XM_005269741.3:c.*2048G>A | XP_005269798.1:n.*2048G>A | |
XM_011539736.1:c.*2048G>A | XP_011538038.1:n.*2048G>A | |
NM_145868.2:c.*2048G>A MANE Select | NP_665875.1:n.*2048G>A | |
NM_001157.3:c.*2048G>A | NP_001148.1:n.*2048G>A | |
NM_001278407.2:c.*2048G>A | NP_001265336.1:n.*2048G>A | |
NM_001278409.2:c.*2048G>A | NP_001265338.1:n.*2048G>A | |
NM_145869.2:c.*2048G>A | NP_665876.1:n.*2048G>A | |
NM_001278408.2:c.*2048G>A | NP_001265337.1:n.*2048G>A |