HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472547T= , CM000677.2:g.48472547T= | GRCh38 |
NC_000015.9:g.48764744T= , CM000677.1:g.48764744T= | GRCh37 |
NC_000015.8:g.46552036T= | NCBI36 |
NG_008805.2:g.178242A= , LRG_778:g.178242A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4336+4A= | ENSP00000453958.2:n.4336+4A= | |
ENST00000674301.2:c.4336+4A= | ENSP00000501333.2:n.4336+4A= | |
ENST00000683268.1:n.303+4A= | ||
ENST00000684448.1:n.3010+4A= | ||
ENST00000316623.10:c.4336+4A= MANE Select | ENSP00000325527.5:n.4336+4A= | |
ENST00000316623.9:c.4336+4A= | ENSP00000325527.5:n.4336+4A= | |
ENST00000537463.6:c.*99+4A= | ENSP00000440294.2:n.*99+4A= | |
NM_000138.4:c.4336+4A= , LRG_778t1:c.4336+4A= | NP_000129.3:n.4336+4A= | |
NM_000138.5:c.4336+4A= MANE Select | NP_000129.3:n.4336+4A= |