HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178904G>C , CM000673.2:g.89178904G>C | GRCh38 |
NC_000011.9:g.88912072G>C , CM000673.1:g.88912072G>C | GRCh37 |
NC_000011.8:g.88551720G>C | NCBI36 |
NG_008748.1:g.6033G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.819+132G>C MANE Select | ENSP00000263321.4:n.819+132G>C | |
ENST00000263321.5:c.819+132G>C | ENSP00000263321.4:n.819+132G>C | |
ENST00000526139.1:n.880+132G>C | ||
NM_000372.4:c.819+132G>C | NP_000363.1:n.819+132G>C | |
XM_011542970.1:c.819+132G>C | XP_011541272.1:n.819+132G>C | |
XM_011542970.2:c.819+132G>C | XP_011541272.1:n.819+132G>C | |
XR_001748321.1:n.2718-65371C>G | ||
XR_001748322.1:n.2733-65371C>G | ||
NM_000372.5:c.819+132G>C MANE Select | NP_000363.1:n.819+132G>C |