HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57765988G= , CM000674.2:g.57765988G= | GRCh38 |
NC_000012.11:g.58159771G= , CM000674.1:g.58159771G= | GRCh37 |
NC_000012.10:g.56446038G= | NCBI36 |
NG_007076.1:g.6206C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.298+19C= | ||
ENST00000713544.1:c.386+19C= | ENSP00000518840.1:n.386+19C= | |
ENST00000713545.1:c.386+19C= | ENSP00000518841.1:n.386+19C= | |
ENST00000228606.9:c.386+19C= MANE Select | ENSP00000228606.4:n.386+19C= | |
ENST00000228606.8:c.386+19C= | ENSP00000228606.4:n.386+19C= | |
ENST00000546496.1:n.214+19C= | ||
ENST00000546609.1:c.298+19C= | ||
ENST00000547344.5:n.440+19C= | ||
ENST00000552186.1:n.505+19C= | ||
NM_000785.3:c.386+19C= | NP_000776.1:n.386+19C= | |
NM_000785.4:c.386+19C= MANE Select | NP_000776.1:n.386+19C= |