HGVS | Genome Assembly |
---|---|
NC_000007.14:g.30497160C>T , CM000669.2:g.30497160C>T | GRCh38 |
NC_000007.13:g.30536776C>T , CM000669.1:g.30536776C>T | GRCh37 |
NC_000007.12:g.30503301C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000275428.9:c.499G>A MANE Select | ENSP00000275428.4:p.Asp167Asn | |
ENST00000005374.10:c.*18G>A | ENSP00000005374.6:n.*18G>A | |
ENST00000275428.8:c.499G>A | ENSP00000275428.4:p.Asp167Asn | |
ENST00000409144.5:c.217G>A | ENSP00000386610.1:p.Asp73Asn | |
ENST00000409390.5:c.*18G>A | ENSP00000387235.1:n.*18G>A | |
ENST00000426081.5:c.513G>A | ||
ENST00000440082.5:c.*197G>A | ENSP00000408015.1:n.*197G>A | |
ENST00000447901.1:c.*353G>A | ENSP00000387809.1:n.*353G>A | |
ENST00000598361.4:c.244G>A | ENSP00000470615.1:p.Asp82Asn | |
NM_001199815.1:c.*18G>A | NP_001186744.1:n.*18G>A | |
NM_001199816.1:c.*18G>A | NP_001186745.1:n.*18G>A | |
NM_001199817.1:c.217G>A | NP_001186746.1:p.Asp73Asn | |
NM_024051.3:c.499G>A | NP_076956.1:p.Asp167Asn | |
NR_037669.1:n.485G>A | ||
NM_024051.4:c.499G>A MANE Select | NP_076956.1:p.Asp167Asn | |
NM_001199815.2:c.*18G>A | NP_001186744.1:n.*18G>A | |
NM_001199817.2:c.217G>A | NP_001186746.1:p.Asp73Asn | |
NR_037669.2:n.473G>A | ||
NM_001199816.2:c.*18G>A | NP_001186745.1:n.*18G>A |