HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111097096G>A , CM000667.2:g.111097096G>A | GRCh38 |
NC_000005.9:g.110432794G>A , CM000667.1:g.110432794G>A | GRCh37 |
NC_000005.8:g.110460693G>A | NCBI36 |
NG_008979.1:g.9925G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000513710.4:c.208G>A MANE Select | ENSP00000424628.3:p.Asp70Asn | |
ENST00000504122.2:n.90G>A | ||
ENST00000505303.5:n.344G>A | ||
ENST00000506538.6:c.376G>A | ENSP00000423067.2:p.Asp126Asn | |
ENST00000513710.3:c.208G>A | ENSP00000424628.3:p.Asp70Asn | |
ENST00000612402.4:c.376G>A | ENSP00000479950.1:p.Asp126Asn | |
NM_139281.2:c.376G>A | NP_644810.1:p.Asp126Asn | |
XM_011543163.1:c.376G>A | XP_011541465.1:p.Asp126Asn | |
NM_139281.3:c.208G>A MANE Select | NP_644810.2:p.Asp70Asn |