HGVS | Genome Assembly |
---|---|
NC_000008.11:g.62971034C>T , CM000670.2:g.62971034C>T | GRCh38 |
NC_000008.10:g.63883593C>T , CM000670.1:g.63883593C>T | GRCh37 |
NC_000008.9:g.64046147C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000519049.6:c.533-28197C>T | ENSP00000501734.1:n.533-28197C>T | |
ENST00000623646.3:c.*5627C>T MANE Select | ENSP00000501908.1:n.*5627C>T | |
ENST00000674864.1:c.603+17062C>T | ENSP00000502526.1:n.603+17062C>T | |
ENST00000674873.1:n.493-40953C>T | ||
ENST00000523211.5:c.533-19134C>T | ENSP00000429073.1:n.533-19134C>T | |
NR_130764.1:n.665-19134C>T | ||
XM_017013359.1:c.533-28197C>T | XP_016868848.1:n.533-28197C>T | |
NR_130764.2:n.753-19134C>T | ||
NM_001304533.3:c.*5627C>T MANE Select | NP_001291462.1:n.*5627C>T |