gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232545570C>T , CM000664.2:g.232545570C>T | GRCh38 |
| NC_000002.11:g.233410280C>T , CM000664.1:g.233410280C>T | GRCh37 |
| NC_000002.10:g.233118524C>T | NCBI36 |
| NG_012954.1:g.10844C>T | |
| NG_012954.2:g.10879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408957.7:c.*2537G>A (TIGD1) MANE Select | ENSP00000386186.3:n.*2537G>A | |
| ENST00000651502.1:c.1408C>T (CHRNG) MANE Select | ENSP00000498757.1:p.Arg470Ter | |
| ENST00000389492.3:c.1252C>T (CHRNG) | ENSP00000374143.3:p.Arg418Ter | |
| ENST00000389494.7:c.1408C>T (CHRNG) | ENSP00000374145.3:p.Arg470Ter | |
| NM_005199.4:c.1408C>T (CHRNG) | NP_005190.4:p.Arg470Ter | |
| NM_005199.5:c.1408C>T (CHRNG) MANE Select | NP_005190.4:p.Arg470Ter | |
| NM_145702.4:c.*2537G>A (TIGD1) MANE Select | NP_663748.1:n.*2537G>A |