HGVS | Genome Assembly |
---|---|
NC_000009.12:g.77794553T>G , CM000671.2:g.77794553T>G | GRCh38 |
NC_000009.11:g.80409469T>G , CM000671.1:g.80409469T>G | GRCh37 |
NC_000009.10:g.79599289T>G | NCBI36 |
NG_027904.2:g.241751A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286548.9:c.645A>C MANE Select | ENSP00000286548.4:p.Lys215Asn | |
ENST00000286548.8:c.645A>C | ENSP00000286548.4:p.Lys215Asn | |
NM_002072.4:c.645A>C | NP_002063.2:p.Lys215Asn | |
XM_017014628.2:c.471A>C | XP_016870117.1:p.Lys157Asn | |
NM_002072.5:c.645A>C MANE Select | NP_002063.2:p.Lys215Asn |