HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69647993G>C , CM000673.2:g.69647993G>C | GRCh38 |
NC_000011.9:g.69462761G>C , CM000673.1:g.69462761G>C | GRCh37 |
NC_000011.8:g.69171942G>C | NCBI36 |
NG_007375.1:g.11889G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227507.3:c.575-1G>C MANE Select | ENSP00000227507.2:n.575-1G>C | |
ENST00000227507.2:c.575-1G>C | ENSP00000227507.2:n.575-1G>C | |
ENST00000536559.1:c.199-1G>C | ENSP00000438482.1:n.199-1G>C | |
ENST00000542367.1:n.37G>C | ||
ENST00000545484.1:n.281-1G>C | ||
NM_053056.2:c.575-1G>C | NP_444284.1:n.575-1G>C | |
XM_006718653.2:c.599-1G>C | XP_006718716.1:n.599-1G>C | |
NM_053056.3:c.575-1G>C MANE Select | NP_444284.1:n.575-1G>C |