HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154903561C>G , CM000685.2:g.154903561C>G | GRCh38 |
NC_000023.10:g.154131836C>G , CM000685.1:g.154131836C>G | GRCh37 |
NC_000023.9:g.153785030C>G | NCBI36 |
NG_011403.1:g.124163G>C | |
NG_011403.2:g.124163G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.5998+345G>C MANE Select | ENSP00000353393.4:n.5998+345G>C | |
ENST00000360256.8:c.5998+345G>C | ENSP00000353393.4:n.5998+345G>C | |
NM_000132.3:c.5998+345G>C | NP_000123.1:n.5998+345G>C | |
XM_011531126.1:c.5893+345G>C | XP_011529428.1:n.5893+345G>C | |
NM_000132.4:c.5998+345G>C MANE Select | NP_000123.1:n.5998+345G>C |