HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797595G= , CM000678.2:g.8797595G= | GRCh38 |
NC_000016.9:g.8891452G= , CM000678.1:g.8891452G= | GRCh37 |
NC_000016.8:g.8798953G= | NCBI36 |
NG_009209.1:g.4783G= | |
NG_033146.1:g.5054C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333050.7:c.3+17C= (TMEM186) MANE Select | ENSP00000331640.6:n.3+17C= | |
ENST00000333050.6:c.3+17C= (TMEM186) | ENSP00000331640.6:n.3+17C= | |
ENST00000564869.1:n.31+17C= (TMEM186) | ||
ENST00000566983.5:c.-15-4204G= (PMM2) | ENSP00000457956.1:n.-15-4204G= | |
NM_015421.3:c.3+17C= (TMEM186) | NP_056236.2:n.3+17C= | |
NM_015421.4:c.3+17C= (TMEM186) MANE Select | NP_056236.2:n.3+17C= |