HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278716G>A , CM000678.2:g.2278716G>A | GRCh38 |
NC_000016.9:g.2328717G>A , CM000678.1:g.2328717G>A | GRCh37 |
NC_000016.8:g.2268718G>A | NCBI36 |
NG_011790.1:g.67031C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4547+227C>T MANE Select | ENSP00000301732.5:n.4547+227C>T | |
ENST00000301732.9:c.4547+227C>T | ENSP00000301732.5:n.4547+227C>T | |
ENST00000382381.7:c.4373+227C>T | ENSP00000371818.3:n.4373+227C>T | |
ENST00000566200.1:n.1068+227C>T | ||
NM_001089.2:c.4547+227C>T | NP_001080.2:n.4547+227C>T | |
NM_001089.3:c.4547+227C>T MANE Select | NP_001080.2:n.4547+227C>T |