HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48497235A= , CM000677.2:g.48497235A= | GRCh38 |
NC_000015.9:g.48789432A= , CM000677.1:g.48789432A= | GRCh37 |
NC_000015.8:g.46576724A= | NCBI36 |
NG_008805.2:g.153554T= , LRG_778:g.153554T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.2293+31T= | ENSP00000453958.2:n.2293+31T= | |
ENST00000674301.2:c.2293+31T= | ENSP00000501333.2:n.2293+31T= | |
ENST00000684448.1:n.967+31T= | ||
ENST00000316623.10:c.2293+31T= MANE Select | ENSP00000325527.5:n.2293+31T= | |
ENST00000316623.9:c.2293+31T= | ENSP00000325527.5:n.2293+31T= | |
ENST00000537463.6:c.637-22585T= | ENSP00000440294.2:n.637-22585T= | |
NM_000138.4:c.2293+31T= , LRG_778t1:c.2293+31T= | NP_000129.3:n.2293+31T= | |
NM_000138.5:c.2293+31T= MANE Select | NP_000129.3:n.2293+31T= |