Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232545785T>G , CM000664.2:g.232545785T>G | GRCh38 |
| NC_000002.11:g.233410495T>G , CM000664.1:g.233410495T>G | GRCh37 |
| NC_000002.10:g.233118739T>G | NCBI36 |
| NG_012954.1:g.11059T>G | |
| NG_012954.2:g.11094T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408957.7:c.*2322A>C (TIGD1) MANE Select | ENSP00000386186.3:n.*2322A>C | |
| ENST00000651502.1:c.*69T>G (CHRNG) MANE Select | ENSP00000498757.1:n.*69T>G | |
| ENST00000389494.7:c.*69T>G (CHRNG) | ENSP00000374145.3:n.*69T>G | |
| NM_005199.4:c.*69T>G (CHRNG) | NP_005190.4:n.*69T>G | |
| NM_005199.5:c.*69T>G (CHRNG) MANE Select | NP_005190.4:n.*69T>G | |
| NM_145702.4:c.*2322A>C (TIGD1) MANE Select | NP_663748.1:n.*2322A>C |