HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95321453C>G , CM000669.2:g.95321453C>G | GRCh38 |
NC_000007.13:g.94950765C>G , CM000669.1:g.94950765C>G | GRCh37 |
NC_000007.12:g.94788701C>G | NCBI36 |
NG_008779.1:g.8120G>C | |
NG_008779.2:g.8254G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222381.8:c.74+2949G>C MANE Select | ENSP00000222381.3:n.74+2949G>C | |
ENST00000222381.7:c.74+2949G>C | ENSP00000222381.3:n.74+2949G>C | |
ENST00000433729.1:c.74+2949G>C | ENSP00000407359.1:n.74+2949G>C | |
NM_000446.5:c.74+2949G>C | NP_000437.3:n.74+2949G>C | |
NM_000446.6:c.74+2949G>C | NP_000437.3:n.74+2949G>C | |
NM_000446.7:c.74+2949G>C MANE Select | NP_000437.3:n.74+2949G>C |