HGVS | Genome Assembly |
---|---|
NC_000016.10:g.8797645C>G , CM000678.2:g.8797645C>G | GRCh38 |
NC_000016.9:g.8891502C>G , CM000678.1:g.8891502C>G | GRCh37 |
NC_000016.8:g.8799003C>G | NCBI36 |
NG_009209.1:g.4833C>G | |
NG_033146.1:g.5004G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333050.6:c.-31G>C (TMEM186) | ENSP00000331640.6:n.-31G>C | |
ENST00000566983.5:c.-15-4154C>G (PMM2) | ENSP00000457956.1:n.-15-4154C>G | |
NM_015421.3:c.-31G>C (TMEM186) | NP_056236.2:n.-31G>C |