HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997115G>C , CM000685.2:g.154997115G>C | GRCh38 |
NC_000023.10:g.154225390G>C , CM000685.1:g.154225390G>C | GRCh37 |
NC_000023.9:g.153878584G>C | NCBI36 |
NG_011403.1:g.30609C>G | |
NG_011403.2:g.30609C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.266-20C>G MANE Select | ENSP00000353393.4:n.266-20C>G | |
ENST00000647125.1:c.*52-20C>G | ENSP00000496062.1:n.*52-20C>G | |
ENST00000360256.8:c.266-20C>G | ENSP00000353393.4:n.266-20C>G | |
ENST00000423959.5:c.161-20C>G | ENSP00000409446.1:n.161-20C>G | |
ENST00000453950.1:c.248-20C>G | ENSP00000389153.1:n.248-20C>G | |
NM_000132.3:c.266-20C>G | NP_000123.1:n.266-20C>G | |
XM_011531126.1:c.161-20C>G | XP_011529428.1:n.161-20C>G | |
NM_000132.4:c.266-20C>G MANE Select | NP_000123.1:n.266-20C>G |