HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794500C>T , CM000671.2:g.77794500C>T | GRCh38 |
NC_000009.11:g.80409416C>T , CM000671.1:g.80409416C>T | GRCh37 |
NC_000009.10:g.79599236C>T | NCBI36 |
NG_027904.2:g.241804G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.698G>A MANE Select | ENSP00000286548.4:p.Ser233Asn | |
ENST00000286548.8:c.698G>A | ENSP00000286548.4:p.Ser233Asn | |
NM_002072.4:c.698G>A | NP_002063.2:p.Ser233Asn | |
XM_017014628.2:c.524G>A | XP_016870117.1:p.Ser175Asn | |
NM_002072.5:c.698G>A MANE Select | NP_002063.2:p.Ser233Asn |