HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833977G= , CM000686.2:g.12833977G= | GRCh38 |
NC_000024.9:g.14945903G= , CM000686.1:g.14945903G= | GRCh37 |
NC_000024.8:g.13455297G= | NCBI36 |
NG_008311.1:g.137744G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5195+116G= | ENSP00000498372.1:n.5195+116G= | |
ENST00000338981.7:c.5195+116G= MANE Select | ENSP00000342812.3:n.5195+116G= | |
ENST00000426564.6:n.5207+116G= | ||
NM_004654.3:c.5195+116G= | NP_004645.2:n.5195+116G= | |
XM_011531469.1:c.5195+116G= | XP_011529771.1:n.5195+116G= | |
XM_011531470.1:c.4961+116G= | XP_011529772.1:n.4961+116G= | |
XM_017030078.2:c.5210+116G= | XP_016885567.1:n.5210+116G= | |
NM_004654.4:c.5195+116G= MANE Select | NP_004645.2:n.5195+116G= |