HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29071283C>G , CM000664.2:g.29071283C>G | GRCh38 |
NC_000002.11:g.29294149C>G , CM000664.1:g.29294149C>G | GRCh37 |
NC_000002.10:g.29147653C>G | NCBI36 |
NG_021427.1:g.7979G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331664.6:c.2979G>C MANE Select | ENSP00000332809.4:p.Lys993Asn | |
ENST00000331664.5:c.2979G>C | ENSP00000332809.4:p.Lys993Asn | |
NM_001029883.2:c.2979G>C | NP_001025054.1:p.Lys993Asn | |
XM_011532826.1:c.2979G>C | XP_011531128.1:p.Lys993Asn | |
XR_939901.1:n.185+2116C>G | ||
XR_939902.1:n.173+2128C>G | ||
NM_001029883.3:c.2979G>C MANE Select | NP_001025054.1:p.Lys993Asn |