HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940802C>G , CM000678.2:g.67940802C>G | GRCh38 |
NC_000016.9:g.67974705C>G , CM000678.1:g.67974705C>G | GRCh37 |
NC_000016.8:g.66532206C>G | NCBI36 |
NG_009778.1:g.8311G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-324G>C MANE Select | ENSP00000264005.5:n.749-324G>C | |
ENST00000264005.9:c.749-324G>C | ENSP00000264005.5:n.749-324G>C | |
ENST00000570369.5:c.156-728G>C | ||
ENST00000570980.1:c.533-324G>C | ENSP00000464651.1:n.533-324G>C | |
ENST00000573538.5:c.421G>C | ENSP00000463220.1:n.421G>C | |
NM_000229.1:c.749-324G>C | NP_000220.1:n.749-324G>C | |
NM_000229.2:c.749-324G>C MANE Select | NP_000220.1:n.749-324G>C |