HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89191295G>C , CM000673.2:g.89191295G>C | GRCh38 |
NC_000011.9:g.88924463G>C , CM000673.1:g.88924463G>C | GRCh37 |
NC_000011.8:g.88564111G>C | NCBI36 |
NG_008748.1:g.18424G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263321.6:c.913G>C MANE Select | ENSP00000263321.4:p.Asp305His | |
ENST00000263321.5:c.913G>C | ENSP00000263321.4:p.Asp305His | |
ENST00000526139.1:n.974G>C | ||
NM_000372.4:c.913G>C | NP_000363.1:p.Asp305His | |
XM_011542970.1:c.913G>C | XP_011541272.1:p.Asp305His | |
XM_011542970.2:c.913G>C | XP_011541272.1:p.Asp305His | |
XR_001748321.1:n.2718-77762C>G | ||
XR_001748322.1:n.2733-77762C>G | ||
NM_000372.5:c.913G>C MANE Select | NP_000363.1:p.Asp305His |