HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43949686G>T , CM000685.2:g.43949686G>T | GRCh38 |
NC_000023.10:g.43808932G>T , CM000685.1:g.43808932G>T | GRCh37 |
NC_000023.9:g.43693876G>T | NCBI36 |
NG_009832.1:g.28990C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642620.1:c.*113C>A MANE Select | ENSP00000495972.1:n.*113C>A | |
ENST00000647044.1:c.*113C>A | ENSP00000495811.1:n.*113C>A | |
ENST00000378062.5:c.*113C>A | ENSP00000367301.5:n.*113C>A | |
ENST00000470584.1:n.559C>A | ||
NM_000266.3:c.*113C>A | NP_000257.1:n.*113C>A | |
NM_000266.4:c.*113C>A MANE Select | NP_000257.1:n.*113C>A |