HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178820A>C , CM000673.2:g.89178820A>C | GRCh38 |
NC_000011.9:g.88911988A>C , CM000673.1:g.88911988A>C | GRCh37 |
NC_000011.8:g.88551636A>C | NCBI36 |
NG_008748.1:g.5949A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.819+48A>C MANE Select | ENSP00000263321.4:n.819+48A>C | |
ENST00000263321.5:c.819+48A>C | ENSP00000263321.4:n.819+48A>C | |
ENST00000526139.1:n.880+48A>C | ||
NM_000372.4:c.819+48A>C | NP_000363.1:n.819+48A>C | |
XM_011542970.1:c.819+48A>C | XP_011541272.1:n.819+48A>C | |
XM_011542970.2:c.819+48A>C | XP_011541272.1:n.819+48A>C | |
XR_001748321.1:n.2718-65287T>G | ||
XR_001748322.1:n.2733-65287T>G | ||
NM_000372.5:c.819+48A>C MANE Select | NP_000363.1:n.819+48A>C |