HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6770074G>A , CM000682.2:g.6770074G>A | GRCh38 |
NC_000020.10:g.6750721G>A , CM000682.1:g.6750721G>A | GRCh37 |
NC_000020.9:g.6698721G>A | NCBI36 |
NG_023233.1:g.6977G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378827.5:c.-7-46G>A MANE Select | ENSP00000368104.3:n.-7-46G>A | |
ENST00000378827.4:c.-7-46G>A | ENSP00000368104.3:n.-7-46G>A | |
NM_001200.2:c.-7-46G>A | NP_001191.1:n.-7-46G>A | |
XM_011529323.1:c.-123+1199G>A | XP_011527625.1:n.-123+1199G>A | |
NM_001200.3:c.-7-46G>A | NP_001191.1:n.-7-46G>A | |
NM_001200.4:c.-7-46G>A MANE Select | NP_001191.1:n.-7-46G>A |