HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78123266T>G , CM000685.2:g.78123266T>G | GRCh38 |
NC_000023.10:g.77378763T>G , CM000685.1:g.77378763T>G | GRCh37 |
NC_000023.9:g.77265419T>G | NCBI36 |
NG_008862.1:g.24098T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.828T>G MANE Select | ENSP00000362413.4:p.Asn276Lys | |
ENST00000644362.1:c.744T>G | ENSP00000496140.1:p.Asn248Lys | |
ENST00000373316.4:c.828T>G | ENSP00000362413.4:p.Asn276Lys | |
ENST00000474281.1:n.235T>G | ||
NM_000291.3:c.828T>G | NP_000282.1:p.Asn276Lys | |
NM_000291.4:c.828T>G MANE Select | NP_000282.1:p.Asn276Lys |