HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324666C>A , CM000669.2:g.95324666C>A | GRCh38 |
NC_000007.13:g.94953978C>A , CM000669.1:g.94953978C>A | GRCh37 |
NC_000007.12:g.94791914C>A | NCBI36 |
NG_008779.1:g.4907G>T | |
NG_008779.2:g.5041G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.7:c.-191G>T | ENSP00000222381.3:n.-191G>T | |
NM_000446.6:c.-191G>T | NP_000437.3:n.-191G>T |