HGVS | Genome Assembly |
---|---|
NC_000006.12:g.118297735C>A , CM000668.2:g.118297735C>A | GRCh38 |
NC_000006.11:g.118618898C>A , CM000668.1:g.118618898C>A | GRCh37 |
NC_000006.10:g.118725591C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360388.9:c.1002+12397C>A MANE Select | ENSP00000353557.4:n.1002+12397C>A | |
ENST00000360388.8:c.1002+12397C>A | ENSP00000353557.4:n.1002+12397C>A | |
ENST00000621341.1:c.825+12397C>A | ENSP00000484738.1:n.825+12397C>A | |
NM_001029858.3:c.1002+12397C>A | NP_001025029.2:n.1002+12397C>A | |
XM_005266865.3:c.1002+12397C>A | XP_005266922.1:n.1002+12397C>A | |
XR_942913.1:n.342-7225G>T | ||
XM_005266865.4:c.1002+12397C>A | XP_005266922.1:n.1002+12397C>A | |
NM_001029858.4:c.1002+12397C>A MANE Select | NP_001025029.2:n.1002+12397C>A |