HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52433807C>G , CM000674.2:g.52433807C>G | GRCh38 |
NC_000012.11:g.52827591C>G , CM000674.1:g.52827591C>G | GRCh37 |
NC_000012.10:g.51113858C>G | NCBI36 |
NG_008403.1:g.5520G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252245.6:c.498G>C MANE Select | ENSP00000252245.5:p.Lys166Asn | |
ENST00000252245.5:c.498G>C | ENSP00000252245.5:p.Lys166Asn | |
NM_004693.2:c.498G>C | NP_004684.2:p.Lys166Asn | |
NM_004693.3:c.498G>C MANE Select | NP_004684.2:p.Lys166Asn |