HGVS | Genome Assembly |
---|---|
NC_000012.12:g.76346707T>G , CM000674.2:g.76346707T>G | GRCh38 |
NC_000012.11:g.76740487T>G , CM000674.1:g.76740487T>G | GRCh37 |
NC_000012.10:g.75264618T>G | NCBI36 |
NG_016357.1:g.6736A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000650064.2:c.1278A>C MANE Select | ENSP00000497413.1:p.Lys426Asn | |
ENST00000393262.3:c.1278A>C | ENSP00000376946.3:p.Lys426Asn | |
NM_024685.3:c.1278A>C | NP_078961.3:p.Lys426Asn | |
NM_024685.4:c.1278A>C MANE Select | NP_078961.3:p.Lys426Asn |