HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40845015C>G , CM000681.2:g.40845015C>G | GRCh38 |
NC_000019.9:g.41350920C>G , CM000681.1:g.41350920C>G | GRCh37 |
NC_000019.8:g.46042760C>G | NCBI36 |
NG_008377.1:g.10433G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.1162-243G>C MANE Select | ENSP00000301141.4:n.1162-243G>C | |
ENST00000301141.9:c.1162-243G>C | ENSP00000301141.4:n.1162-243G>C | |
ENST00000596719.5:n.1291G>C | ||
ENST00000601627.1:c.119+43600C>G | ||
ENST00000610301.1:c.1162-243G>C | ENSP00000477899.1:n.1162-243G>C | |
NM_000762.5:c.1162-243G>C | NP_000753.3:n.1162-243G>C | |
NM_000762.6:c.1162-243G>C MANE Select | NP_000753.3:n.1162-243G>C |