HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357275C>T , CM000667.2:g.128357275C>T | GRCh38 |
NC_000005.9:g.127692967C>T , CM000667.1:g.127692967C>T | GRCh37 |
NC_000005.8:g.127720866C>T | NCBI36 |
NG_008750.1:g.185769G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2674+1G>A MANE Select | ENSP00000262464.4:n.2674+1G>A | |
ENST00000262464.8:c.2674+1G>A | ENSP00000262464.4:n.2674+1G>A | |
ENST00000508053.5:c.2674+1G>A | ENSP00000424571.1:n.2674+1G>A | |
ENST00000508989.5:c.2575+1G>A | ENSP00000425596.1:n.2575+1G>A | |
ENST00000619499.4:c.2671+1G>A | ENSP00000482132.1:n.2671+1G>A | |
NM_001999.3:c.2674+1G>A | NP_001990.2:n.2674+1G>A | |
XM_017009228.2:c.2521+1G>A | XP_016864717.1:n.2521+1G>A | |
NM_001999.4:c.2674+1G>A MANE Select | NP_001990.2:n.2674+1G>A |