HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95324452G>C , CM000669.2:g.95324452G>C | GRCh38 |
NC_000007.13:g.94953764G>C , CM000669.1:g.94953764G>C | GRCh37 |
NC_000007.12:g.94791700G>C | NCBI36 |
NG_008779.1:g.5121C>G | |
NG_008779.2:g.5255C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.24C>G MANE Select | ENSP00000222381.3:p.Thr8= | |
ENST00000222381.7:c.24C>G | ENSP00000222381.3:p.Thr8= | |
ENST00000433729.1:c.24C>G | ENSP00000407359.1:p.Thr8= | |
NM_000446.5:c.24C>G | NP_000437.3:p.Thr8= | |
NM_000446.6:c.24C>G | NP_000437.3:p.Thr8= | |
NM_000446.7:c.24C>G MANE Select | NP_000437.3:p.Thr8= |