HGVS | Genome Assembly |
---|---|
NC_000007.14:g.157005841T>G , CM000669.2:g.157005841T>G | GRCh38 |
NC_000007.13:g.156798535T>G , CM000669.1:g.156798535T>G | GRCh37 |
NC_000007.12:g.156491296T>G | NCBI36 |
NG_013212.1:g.9813A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252971.11:c.885A>C MANE Select | ENSP00000252971.5:p.Lys295Asn | |
ENST00000252971.10:c.885A>C | ENSP00000252971.5:p.Lys295Asn | |
ENST00000469500.5:c.55+3157A>C | ENSP00000475129.1:n.55+3157A>C | |
ENST00000479817.1:c.38+3819A>C | ||
ENST00000543409.5:c.249A>C | ENSP00000438552.1:p.Lys83Asn | |
NM_001165255.1:c.249A>C | NP_001158727.1:p.Lys83Asn | |
NM_005515.3:c.885A>C | NP_005506.3:p.Lys295Asn | |
NM_005515.4:c.885A>C MANE Select | NP_005506.3:p.Lys295Asn | |
NM_001165255.2:c.249A>C | NP_001158727.1:p.Lys83Asn |