HGVS | Genome Assembly |
---|---|
NC_000006.12:g.10877139C>G , CM000668.2:g.10877139C>G | GRCh38 |
NC_000006.11:g.10877372C>G , CM000668.1:g.10877372C>G | GRCh37 |
NC_000006.10:g.10985358C>G | NCBI36 |
NG_008970.1:g.9727G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379491.5:c.343+1G>C MANE Select | ENSP00000368805.4:n.343+1G>C | |
ENST00000379491.4:c.343+1G>C | ENSP00000368805.4:n.343+1G>C | |
ENST00000480294.1:c.101-14374C>G | ENSP00000417929.1:n.101-14374C>G | |
NM_004752.3:c.343+1G>C | NP_004743.1:n.343+1G>C | |
XM_011514991.1:c.343+1G>C | XP_011513293.1:n.343+1G>C | |
NM_004752.4:c.343+1G>C MANE Select | NP_004743.1:n.343+1G>C |