HGVS | Genome Assembly |
---|---|
NC_000001.11:g.6112176T>C , CM000663.2:g.6112176T>C | GRCh38 |
NC_000001.10:g.6172236T>C , CM000663.1:g.6172236T>C | GRCh37 |
NC_000001.9:g.6094823T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262450.8:c.5104A>G MANE Select | ENSP00000262450.3:p.Lys1702Glu | |
ENST00000262450.7:c.5104A>G | ENSP00000262450.3:p.Lys1702Glu | |
ENST00000377999.5:c.2007A>G | ENSP00000367238.2:n.2007A>G | |
ENST00000462991.5:c.3357A>G | ||
ENST00000496404.1:c.3822A>G | ENSP00000433676.1:n.3822A>G | |
NM_015557.2:c.5104A>G | NP_056372.1:p.Lys1702Glu | |
NM_015557.3:c.5104A>G MANE Select | NP_056372.1:p.Lys1702Glu |