HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29073099G>C , CM000664.2:g.29073099G>C | GRCh38 |
NC_000002.11:g.29295965G>C , CM000664.1:g.29295965G>C | GRCh37 |
NC_000002.10:g.29149469G>C | NCBI36 |
NG_021427.1:g.6163C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.1163C>G MANE Select | ENSP00000332809.4:p.Thr388Arg | |
ENST00000331664.5:c.1163C>G | ENSP00000332809.4:p.Thr388Arg | |
NM_001029883.2:c.1163C>G | NP_001025054.1:p.Thr388Arg | |
XM_011532826.1:c.1163C>G | XP_011531128.1:p.Thr388Arg | |
XR_939901.1:n.185+3932G>C | ||
XR_939902.1:n.173+3944G>C | ||
NM_001029883.3:c.1163C>G MANE Select | NP_001025054.1:p.Thr388Arg |