HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797631G>A , CM000678.2:g.8797631G>A | GRCh38 |
NC_000016.9:g.8891488G>A , CM000678.1:g.8891488G>A | GRCh37 |
NC_000016.8:g.8798989G>A | NCBI36 |
NG_009209.1:g.4819G>A | |
NG_033146.1:g.5018C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333050.7:c.-17C>T (TMEM186) MANE Select | ENSP00000331640.6:n.-17C>T | |
ENST00000333050.6:c.-17C>T (TMEM186) | ENSP00000331640.6:n.-17C>T | |
ENST00000564869.1:n.12C>T (TMEM186) | ||
ENST00000566983.5:c.-15-4168G>A (PMM2) | ENSP00000457956.1:n.-15-4168G>A | |
NM_015421.3:c.-17C>T (TMEM186) | NP_056236.2:n.-17C>T | |
NM_015421.4:c.-17C>T (TMEM186) MANE Select | NP_056236.2:n.-17C>T |