HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797643T>C , CM000678.2:g.8797643T>C | GRCh38 |
NC_000016.9:g.8891500T>C , CM000678.1:g.8891500T>C | GRCh37 |
NC_000016.8:g.8799001T>C | NCBI36 |
NG_009209.1:g.4831T>C | |
NG_033146.1:g.5006A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333050.6:c.-29A>G (TMEM186) | ENSP00000331640.6:n.-29A>G | |
ENST00000566983.5:c.-15-4156T>C (PMM2) | ENSP00000457956.1:n.-15-4156T>C | |
NM_015421.3:c.-29A>G (TMEM186) | NP_056236.2:n.-29A>G |