Linked Data
ClinVar Variation Id:
1681859
ClinVar RCV Id:
RCV002239723
dbSNP Id:
rs760697714
ExAC:
14:104029461 G / A
gnomAD v2:
14-104029461-G-A
gnomAD v3:
14-103563124-G-A
gnomAD v4:
14-103563124-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103563124G>A , CM000676.2:g.103563124G>A | GRCh38 |
| NC_000014.8:g.104029461G>A , CM000676.1:g.104029461G>A | GRCh37 |
| NC_000014.7:g.103099214G>A | NCBI36 |
| NG_041786.1:g.5168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409074.8:c.123G>A (COA8) MANE Select | ENSP00000386485.3:p.Gly41= | |
| ENST00000440963.2:c.123G>A (COA8) | ENSP00000388067.2:p.Gly41= | |
| ENST00000458117.6:c.123G>A (COA8) | ENSP00000408525.2:p.Gly41= | |
| ENST00000472726.3:c.123G>A | ENSP00000439065.2:p.Gly41= | |
| ENST00000674165.1:c.162G>A (COA8) | ENSP00000501341.1:p.Gly54= | |
| ENST00000409074.6:c.162G>A (COA8) | ENSP00000386485.2:p.Gly54= | |
| ENST00000440963.1:c.160G>A (COA8) | ENSP00000388067.1:p.Gly54Ser | |
| ENST00000458117.5:c.146G>A (COA8) | ||
| ENST00000472726.2:c.162G>A | ENSP00000439065.1:p.Gly54= | |
| ENST00000489117.5:c.72G>A (COA8) | ENSP00000451788.1:p.Gly24= | |
| ENST00000495778.1:c.48G>A (COA8) | ENSP00000451703.1:p.Gly16= | |
| ENST00000554625.5:n.143G>A (COA8) | ||
| ENST00000556253.6:c.123G>A (COA8) | ENSP00000451874.2:p.Gly41= | |
| ENST00000557172.5:c.-2+1140G>A (KLC1) | ENSP00000450786.1:n.-2+1140G>A | |
| NM_001302652.1:c.162G>A (COA8) | NP_001289581.1:p.Gly54= | |
| NM_001302653.1:c.162G>A (COA8) | NP_001289582.1:p.Gly54= | |
| NM_001302654.1:c.162G>A (COA8) | NP_001289583.1:p.Gly54= | |
| NM_032374.4:c.162G>A (COA8) | NP_115750.2:p.Gly54= | |
| NR_126431.1:n.168G>A (COA8) | ||
| NR_126432.1:n.168G>A (COA8) | ||
| NM_001302652.2:c.123G>A (COA8) | NP_001289581.2:p.Gly41= | |
| NM_001302653.2:c.123G>A (COA8) | NP_001289582.2:p.Gly41= | |
| NM_001302654.2:c.123G>A (COA8) | NP_001289583.2:p.Gly41= | |
| NM_001370595.2:c.123G>A (COA8) MANE Select | NP_001357524.1:p.Gly41= | |
| NR_126431.2:n.165G>A (COA8) | ||
| NR_126432.2:n.165G>A (COA8) |