Linked Data
ClinVar Variation Id:
454538
dbSNP Id:
rs147574550
ExAC:
6:38890944 C / G
gnomAD v2:
6-38890944-C-G
gnomAD v3:
6-38923168-C-G
gnomAD v4:
6-38923168-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38923168C>G , CM000668.2:g.38923168C>G | GRCh38 |
| NC_000006.11:g.38890944C>G , CM000668.1:g.38890944C>G | GRCh37 |
| NC_000006.10:g.38998922C>G | NCBI36 |
| NG_041805.1:g.212828C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.10773C>G (DNAH8) MANE Select | ENSP00000333363.7:p.Phe3591Leu | |
| ENST00000327475.10:c.10773C>G (DNAH8) | ENSP00000333363.7:p.Phe3591Leu | |
| ENST00000359357.7:c.10122C>G (DNAH8) | ENSP00000352312.3:p.Phe3374Leu | |
| ENST00000449981.6:c.10773C>G (DNAH8) | ENSP00000415331.2:p.Phe3591Leu | |
| NM_001206927.1:c.10773C>G (DNAH8) | NP_001193856.1:p.Phe3591Leu | |
| NR_038401.1:n.699G>C (DNAH8-AS1) | ||
| XM_011514318.1:c.10710C>G (DNAH8) | XP_011512620.1:p.Phe3570Leu | |
| XM_011514319.1:c.10665C>G (DNAH8) | XP_011512621.1:p.Phe3555Leu | |
| XM_011514320.1:c.10536C>G (DNAH8) | XP_011512622.1:p.Phe3512Leu | |
| XM_011514321.1:c.10122C>G (DNAH8) | XP_011512623.1:p.Phe3374Leu | |
| XR_926078.1:n.10890C>G (DNAH8) | ||
| NM_001371.3:c.10122C>G (DNAH8) | NP_001362.2:p.Phe3374Leu | |
| XM_011514318.2:c.10710C>G (DNAH8) | XP_011512620.1:p.Phe3570Leu | |
| XM_011514319.2:c.10665C>G (DNAH8) | XP_011512621.1:p.Phe3555Leu | |
| XM_011514320.2:c.10536C>G (DNAH8) | XP_011512622.1:p.Phe3512Leu | |
| XM_017010325.1:c.10773C>G (DNAH8) | XP_016865814.1:p.Phe3591Leu | |
| XM_017010326.1:c.10773C>G (DNAH8) | XP_016865815.1:p.Phe3591Leu | |
| XR_926078.2:n.10893C>G (DNAH8) | ||
| NM_001206927.2:c.10773C>G (DNAH8) MANE Select | NP_001193856.1:p.Phe3591Leu | |
| NM_001371.4:c.10122C>G (DNAH8) | NP_001362.2:p.Phe3374Leu |