HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13492498C>A , CM000673.2:g.13492498C>A | GRCh38 |
NC_000011.9:g.13514045C>A , CM000673.1:g.13514045C>A | GRCh37 |
NC_000011.8:g.13470621C>A | NCBI36 |
NG_008962.1:g.8523G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282091.6:c.255G>T MANE Select | ENSP00000282091.1:p.Lys85Asn | |
ENST00000282091.5:c.255G>T | ENSP00000282091.1:p.Lys85Asn | |
ENST00000529816.1:c.255G>T | ENSP00000433208.1:p.Lys85Asn | |
NM_000315.2:c.255G>T | NP_000306.1:p.Lys85Asn | |
NM_000315.3:c.255G>T | NP_000306.1:p.Lys85Asn | |
NM_001316352.1:c.351G>T | NP_001303281.1:p.Lys117Asn | |
NM_000315.4:c.255G>T MANE Select | NP_000306.1:p.Lys85Asn | |
NM_001316352.2:c.351G>T | NP_001303281.1:p.Lys117Asn |