HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740573G>C , CM000666.2:g.67740573G>C | GRCh38 |
NC_000004.11:g.68606291G>C , CM000666.1:g.68606291G>C | GRCh37 |
NC_000004.10:g.68288886G>C | NCBI36 |
NG_009293.1:g.20514C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.894C>G MANE Select | ENSP00000226413.5:p.Asn298Lys | |
ENST00000226413.4:c.894C>G | ENSP00000226413.4:p.Asn298Lys | |
ENST00000420975.2:c.766C>G | ENSP00000397561.2:n.766C>G | |
NM_000406.2:c.894C>G | NP_000397.1:p.Asn298Lys | |
NM_001012763.1:c.*16C>G | NP_001012781.1:n.*16C>G | |
NM_000406.3:c.894C>G MANE Select | NP_000397.1:p.Asn298Lys | |
NM_001012763.2:c.*16C>G | NP_001012781.1:n.*16C>G |