HGVS | Genome Assembly |
---|---|
NC_000005.10:g.107646975T>C , CM000667.2:g.107646975T>C | GRCh38 |
NC_000005.9:g.106982676T>C , CM000667.1:g.106982676T>C | GRCh37 |
NC_000005.8:g.107010575T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333274.11:c.125+23514A>G MANE Select | ENSP00000328777.6:n.125+23514A>G | |
ENST00000333274.10:c.125+23514A>G | ENSP00000328777.6:n.125+23514A>G | |
ENST00000504941.1:n.397+23514A>G | ||
ENST00000509503.1:c.125+23514A>G | ENSP00000426989.1:n.125+23514A>G | |
NM_001962.2:c.125+23514A>G | NP_001953.1:n.125+23514A>G | |
XM_006714565.1:c.125+23514A>G | XP_006714628.1:n.125+23514A>G | |
XM_006714565.3:c.125+23514A>G | XP_006714628.1:n.125+23514A>G | |
NM_001962.3:c.125+23514A>G MANE Select | NP_001953.1:n.125+23514A>G |