Linked Data
ClinVar Variation Id:
238658
dbSNP Id:
rs141147863
ExAC:
6:38877490 T / C
gnomAD v2:
6-38877490-T-C
gnomAD v3:
6-38909714-T-C
gnomAD v4:
6-38909714-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38909714T>C , CM000668.2:g.38909714T>C | GRCh38 |
| NC_000006.11:g.38877490T>C , CM000668.1:g.38877490T>C | GRCh37 |
| NC_000006.10:g.38985468T>C | NCBI36 |
| NG_041805.1:g.199374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.9710T>C (DNAH8) MANE Select | ENSP00000333363.7:p.Val3237Ala | |
| ENST00000327475.10:c.9710T>C (DNAH8) | ENSP00000333363.7:p.Val3237Ala | |
| ENST00000359357.7:c.9059T>C (DNAH8) | ENSP00000352312.3:p.Val3020Ala | |
| ENST00000449981.6:c.9710T>C (DNAH8) | ENSP00000415331.2:p.Val3237Ala | |
| NM_001206927.1:c.9710T>C (DNAH8) | NP_001193856.1:p.Val3237Ala | |
| NR_038401.1:n.783-1877A>G (DNAH8-AS1) | ||
| XM_011514318.1:c.9647T>C (DNAH8) | XP_011512620.1:p.Val3216Ala | |
| XM_011514319.1:c.9602T>C (DNAH8) | XP_011512621.1:p.Val3201Ala | |
| XM_011514320.1:c.9473T>C (DNAH8) | XP_011512622.1:p.Val3158Ala | |
| XM_011514321.1:c.9059T>C (DNAH8) | XP_011512623.1:p.Val3020Ala | |
| XR_926078.1:n.9827T>C (DNAH8) | ||
| NM_001371.3:c.9059T>C (DNAH8) | NP_001362.2:p.Val3020Ala | |
| XM_011514318.2:c.9647T>C (DNAH8) | XP_011512620.1:p.Val3216Ala | |
| XM_011514319.2:c.9602T>C (DNAH8) | XP_011512621.1:p.Val3201Ala | |
| XM_011514320.2:c.9473T>C (DNAH8) | XP_011512622.1:p.Val3158Ala | |
| XM_017010325.1:c.9710T>C (DNAH8) | XP_016865814.1:p.Val3237Ala | |
| XM_017010326.1:c.9710T>C (DNAH8) | XP_016865815.1:p.Val3237Ala | |
| XR_926078.2:n.9830T>C (DNAH8) | ||
| NM_001206927.2:c.9710T>C (DNAH8) MANE Select | NP_001193856.1:p.Val3237Ala | |
| NM_001371.4:c.9059T>C (DNAH8) | NP_001362.2:p.Val3020Ala |