HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95308945A>C , CM000669.2:g.95308945A>C | GRCh38 |
NC_000007.13:g.94938257A>C , CM000669.1:g.94938257A>C | GRCh37 |
NC_000007.12:g.94776193A>C | NCBI36 |
NG_008779.1:g.20628T>G | |
NG_008779.2:g.20762T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222381.8:c.498-734T>G MANE Select | ENSP00000222381.3:n.498-734T>G | |
ENST00000222381.7:c.498-734T>G | ENSP00000222381.3:n.498-734T>G | |
ENST00000433729.1:c.*223-734T>G | ENSP00000407359.1:n.*223-734T>G | |
NM_000446.5:c.498-734T>G | NP_000437.3:n.498-734T>G | |
NM_000446.6:c.498-734T>G | NP_000437.3:n.498-734T>G | |
NM_000446.7:c.498-734T>G MANE Select | NP_000437.3:n.498-734T>G |