HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278750A>C , CM000678.2:g.2278750A>C | GRCh38 |
NC_000016.9:g.2328751A>C , CM000678.1:g.2328751A>C | GRCh37 |
NC_000016.8:g.2268752A>C | NCBI36 |
NG_011790.1:g.66997T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4547+193T>G MANE Select | ENSP00000301732.5:n.4547+193T>G | |
ENST00000301732.9:c.4547+193T>G | ENSP00000301732.5:n.4547+193T>G | |
ENST00000382381.7:c.4373+193T>G | ENSP00000371818.3:n.4373+193T>G | |
ENST00000566200.1:n.1068+193T>G | ||
NM_001089.2:c.4547+193T>G | NP_001080.2:n.4547+193T>G | |
NM_001089.3:c.4547+193T>G MANE Select | NP_001080.2:n.4547+193T>G |