HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797626C>A , CM000678.2:g.8797626C>A | GRCh38 |
NC_000016.9:g.8891483C>A , CM000678.1:g.8891483C>A | GRCh37 |
NC_000016.8:g.8798984C>A | NCBI36 |
NG_009209.1:g.4814C>A | |
NG_033146.1:g.5023G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333050.7:c.-12G>T (TMEM186) MANE Select | ENSP00000331640.6:n.-12G>T | |
ENST00000333050.6:c.-12G>T (TMEM186) | ENSP00000331640.6:n.-12G>T | |
ENST00000564869.1:n.17G>T (TMEM186) | ||
ENST00000566983.5:c.-15-4173C>A (PMM2) | ENSP00000457956.1:n.-15-4173C>A | |
NM_015421.3:c.-12G>T (TMEM186) | NP_056236.2:n.-12G>T | |
NM_015421.4:c.-12G>T (TMEM186) MANE Select | NP_056236.2:n.-12G>T |