gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82177162 (AFR)
Genomes Max Group AF
0.82177162 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75939781C>T , CM000676.2:g.75939781C>T | GRCh38 |
| NC_000014.8:g.76406124C>T , CM000676.1:g.76406124C>T | GRCh37 |
| NC_000014.7:g.75475877C>T | NCBI36 |
| NG_016974.1:g.283574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298832.14:c.3824-14643C>T (TTLL5) MANE Select | ENSP00000298832.9:n.3824-14643C>T | |
| ENST00000298832.13:c.3824-14643C>T (TTLL5) | ENSP00000298832.9:n.3824-14643C>T | |
| ENST00000554487.1:n.86-1643C>T (TTLL5) | ||
| ENST00000554972.1:n.315-14643C>T (TTLL5) | ||
| ENST00000555677.5:n.89+37557C>T (IFT43) | ||
| NM_015072.4:c.3824-14643C>T (TTLL5) | NP_055887.3:n.3824-14643C>T | |
| NM_015072.5:c.3824-14643C>T (TTLL5) MANE Select | NP_055887.3:n.3824-14643C>T |