HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2299663A>G , CM000678.2:g.2299663A>G | GRCh38 |
NC_000016.9:g.2349664A>G , CM000678.1:g.2349664A>G | GRCh37 |
NC_000016.8:g.2289665A>G | NCBI36 |
NG_011790.1:g.46084T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301732.10:c.1612-131T>C MANE Select | ENSP00000301732.5:n.1612-131T>C | |
ENST00000301732.9:c.1612-131T>C | ENSP00000301732.5:n.1612-131T>C | |
ENST00000382381.7:c.1438-131T>C | ENSP00000371818.3:n.1438-131T>C | |
ENST00000563623.5:n.2175-131T>C | ||
NM_001089.2:c.1612-131T>C | NP_001080.2:n.1612-131T>C | |
NM_001089.3:c.1612-131T>C MANE Select | NP_001080.2:n.1612-131T>C |