HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357193C>A , CM000667.2:g.128357193C>A | GRCh38 |
NC_000005.9:g.127692885C>A , CM000667.1:g.127692885C>A | GRCh37 |
NC_000005.8:g.127720784C>A | NCBI36 |
NG_008750.1:g.185851G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2674+83G>T MANE Select | ENSP00000262464.4:n.2674+83G>T | |
ENST00000262464.8:c.2674+83G>T | ENSP00000262464.4:n.2674+83G>T | |
ENST00000508053.5:c.2674+83G>T | ENSP00000424571.1:n.2674+83G>T | |
ENST00000508989.5:c.2575+83G>T | ENSP00000425596.1:n.2575+83G>T | |
ENST00000619499.4:c.2671+83G>T | ENSP00000482132.1:n.2671+83G>T | |
NM_001999.3:c.2674+83G>T | NP_001990.2:n.2674+83G>T | |
XM_017009228.2:c.2521+83G>T | XP_016864717.1:n.2521+83G>T | |
NM_001999.4:c.2674+83G>T MANE Select | NP_001990.2:n.2674+83G>T |