HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38408875G>C , CM000685.2:g.38408875G>C | GRCh38 |
NC_000023.10:g.38268128G>C , CM000685.1:g.38268128G>C | GRCh37 |
NC_000023.9:g.38153072G>C | NCBI36 |
NG_008471.1:g.61393G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.718-1G>C MANE Select | ENSP00000039007.4:n.718-1G>C | |
ENST00000643344.1:c.*468-1G>C | ENSP00000496606.1:n.*468-1G>C | |
ENST00000039007.4:c.718-1G>C | ENSP00000039007.4:n.718-1G>C | |
ENST00000465127.1:c.172-257246G>C | ENSP00000417050.1:n.172-257246G>C | |
NM_000531.5:c.718-1G>C | NP_000522.3:n.718-1G>C | |
XM_017029556.1:c.718-1G>C | XP_016885045.1:n.718-1G>C | |
NM_000531.6:c.718-1G>C MANE Select | NP_000522.3:n.718-1G>C |