Linked Data
ClinVar Variation Id:
1113281
ClinVar RCV Id:
RCV001440599
dbSNP Id:
rs2145577870
gnomAD v4:
17-78131987-C-T
MyVariant Identifiers:
chr17:g.76128068C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78131987C>T , CM000679.2:g.78131987C>T | GRCh38 |
| NC_000017.10:g.76128068C>T , CM000679.1:g.76128068C>T | GRCh37 |
| NC_000017.9:g.73639663C>T | NCBI36 |
| NG_007879.1:g.5421G>A , LRG_118:g.5421G>A | |
| NG_007881.1:g.6210C>T , LRG_119:g.6210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318430.10:c.255C>T (TMC8) MANE Select | ENSP00000325561.4:p.Ala85= | |
| ENST00000318430.9:c.255C>T (TMC8) | ENSP00000325561.4:p.Ala85= | |
| ENST00000322914.7:c.-75+354G>A (TMC6) | ENSP00000313408.2:n.-75+354G>A | |
| ENST00000589691.1:c.-371-372C>T (TMC8) | ENSP00000467482.1:n.-371-372C>T | |
| ENST00000590799.5:c.255C>T (TMC8) | ENSP00000465049.1:p.Ala85= | |
| NM_007267.6:c.-75+354G>A , LRG_118t1:c.-75+354G>A (TMC6) | NP_009198.4:n.-75+354G>A | |
| NM_152468.4:c.255C>T , LRG_119t1:c.255C>T (TMC8) | NP_689681.2:p.Ala85= | |
| XM_011524402.1:c.255C>T (TMC8) | XP_011522704.1:p.Ala85= | |
| XM_011524403.1:c.255C>T (TMC8) | XP_011522705.1:p.Ala85= | |
| XM_011524404.1:c.255C>T (TMC8) | XP_011522706.1:p.Ala85= | |
| XM_011524405.1:c.150-193C>T (TMC8) | XP_011522707.1:n.150-193C>T | |
| XM_011524406.1:c.255C>T (TMC8) | XP_011522708.1:p.Ala85= | |
| XM_011524409.1:c.255C>T (TMC8) | XP_011522711.1:p.Ala85= | |
| XM_011524410.1:c.255C>T (TMC8) | XP_011522712.1:p.Ala85= | |
| XM_011524411.1:c.255C>T (TMC8) | XP_011522713.1:p.Ala85= | |
| XR_934395.1:n.2564C>T (TMC8) | ||
| XR_934397.1:n.2564C>T (TMC8) | ||
| XR_934398.1:n.2564C>T (TMC8) | ||
| XR_934400.1:n.2564C>T (TMC8) | ||
| NM_007267.7:c.-75+354G>A (TMC6) | NP_009198.4:n.-75+354G>A | |
| XM_017024244.1:c.255C>T (TMC8) | XP_016879733.1:p.Ala85= | |
| XM_024450617.1:c.255C>T (TMC8) | XP_024306385.1:p.Ala85= | |
| XM_024450618.1:c.255C>T (TMC8) | XP_024306386.1:p.Ala85= | |
| XM_024450619.1:c.255C>T (TMC8) | XP_024306387.1:p.Ala85= | |
| XM_024450620.1:c.255C>T (TMC8) | XP_024306388.1:p.Ala85= | |
| XM_024450621.1:c.255C>T (TMC8) | XP_024306389.1:p.Ala85= | |
| XM_024450622.1:c.255C>T (TMC8) | XP_024306390.1:p.Ala85= | |
| XM_024450623.1:c.255C>T (TMC8) | XP_024306391.1:p.Ala85= | |
| XM_024450624.1:c.255C>T (TMC8) | XP_024306392.1:p.Ala85= | |
| XM_024450625.1:c.255C>T (TMC8) | XP_024306393.1:p.Ala85= | |
| XM_024450626.1:c.255C>T (TMC8) | XP_024306394.1:p.Ala85= | |
| XM_024450627.1:c.255C>T (TMC8) | XP_024306395.1:p.Ala85= | |
| XR_002957973.1:n.336C>T (TMC8) | ||
| XR_002957974.1:n.336C>T (TMC8) | ||
| XR_002957975.1:n.336C>T (TMC8) | ||
| XR_002957976.1:n.336C>T (TMC8) | ||
| XR_002957977.1:n.336C>T (TMC8) | ||
| XR_002957978.1:n.336C>T (TMC8) | ||
| XR_002957979.1:n.336C>T (TMC8) | ||
| NM_152468.5:c.255C>T (TMC8) MANE Select | NP_689681.2:p.Ala85= |