HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324512A>C , CM000669.2:g.95324512A>C | GRCh38 |
NC_000007.13:g.94953824A>C , CM000669.1:g.94953824A>C | GRCh37 |
NC_000007.12:g.94791760A>C | NCBI36 |
NG_008779.1:g.5061T>G | |
NG_008779.2:g.5195T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.-37T>G MANE Select | ENSP00000222381.3:n.-37T>G | |
ENST00000222381.7:c.-37T>G | ENSP00000222381.3:n.-37T>G | |
NM_000446.5:c.-37T>G | NP_000437.3:n.-37T>G | |
NM_000446.6:c.-37T>G | NP_000437.3:n.-37T>G | |
NM_000446.7:c.-37T>G MANE Select | NP_000437.3:n.-37T>G |