Linked Data
ClinVar Variation Id:
1681852
ClinVar RCV Id:
RCV002236621
dbSNP Id:
rs1313946521
gnomAD v2:
14-104029332-T-G
gnomAD v3:
14-103562995-T-G
gnomAD v4:
14-103562995-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103562995T>G , CM000676.2:g.103562995T>G | GRCh38 |
| NC_000014.8:g.104029332T>G , CM000676.1:g.104029332T>G | GRCh37 |
| NC_000014.7:g.103099085T>G | NCBI36 |
| NG_041786.1:g.5039T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409074.8:c.-7T>G (COA8) MANE Select | ENSP00000386485.3:n.-7T>G | |
| ENST00000440963.2:c.-7T>G (COA8) | ENSP00000388067.2:n.-7T>G | |
| ENST00000458117.6:c.-7T>G (COA8) | ENSP00000408525.2:n.-7T>G | |
| ENST00000472726.3:c.-7T>G | ENSP00000439065.2:n.-7T>G | |
| ENST00000674165.1:c.33T>G (COA8) | ENSP00000501341.1:p.Arg11= | |
| ENST00000409074.6:c.33T>G (COA8) | ENSP00000386485.2:p.Arg11= | |
| ENST00000440963.1:c.31T>G (COA8) | ENSP00000388067.1:p.Trp11Gly | |
| ENST00000458117.5:c.17T>G (COA8) | ||
| ENST00000472726.2:c.33T>G | ENSP00000439065.1:p.Arg11= | |
| ENST00000554625.5:n.14T>G (COA8) | ||
| ENST00000556253.6:c.-7T>G (COA8) | ENSP00000451874.2:n.-7T>G | |
| ENST00000557172.5:c.-2+1011T>G (KLC1) | ENSP00000450786.1:n.-2+1011T>G | |
| NM_001302652.1:c.33T>G (COA8) | NP_001289581.1:p.Arg11= | |
| NM_001302653.1:c.33T>G (COA8) | NP_001289582.1:p.Arg11= | |
| NM_001302654.1:c.33T>G (COA8) | NP_001289583.1:p.Arg11= | |
| NM_032374.4:c.33T>G (COA8) | NP_115750.2:p.Arg11= | |
| NR_126431.1:n.39T>G (COA8) | ||
| NR_126432.1:n.39T>G (COA8) | ||
| NM_001302652.2:c.-7T>G (COA8) | NP_001289581.2:n.-7T>G | |
| NM_001302653.2:c.-7T>G (COA8) | NP_001289582.2:n.-7T>G | |
| NM_001302654.2:c.-7T>G (COA8) | NP_001289583.2:n.-7T>G | |
| NM_001370595.2:c.-7T>G (COA8) MANE Select | NP_001357524.1:n.-7T>G | |
| NR_126431.2:n.36T>G (COA8) | ||
| NR_126432.2:n.36T>G (COA8) |