HGVS | Genome Assembly |
---|---|
NC_000001.11:g.23804511G>A , CM000663.2:g.23804511G>A | GRCh38 |
NC_000001.10:g.24131001G>A , CM000663.1:g.24131001G>A | GRCh37 |
NC_000001.9:g.24003588G>A | NCBI36 |
NG_007068.1:g.1294C>T | |
NG_013061.1:g.25949C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374490.8:c.765C>T MANE Select | ENSP00000363614.3:p.Val255= | |
ENST00000235958.4:c.335C>T | ||
ENST00000374487.6:c.*806C>T | ENSP00000363611.2:n.*806C>T | |
ENST00000374490.7:c.765C>T | ENSP00000363614.3:p.Val255= | |
ENST00000436439.6:c.552C>T | ENSP00000389281.2:p.Val184= | |
ENST00000509389.5:n.456C>T | ||
NM_000191.2:c.765C>T | NP_000182.2:p.Val255= | |
NM_001166059.1:c.552C>T | NP_001159531.1:p.Val184= | |
NM_000191.3:c.765C>T MANE Select | NP_000182.2:p.Val255= | |
NM_001166059.2:c.552C>T | NP_001159531.1:p.Val184= |