gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99318074A>G , CM000666.2:g.99318074A>G | GRCh38 |
| NC_000004.11:g.100239231A>G , CM000666.1:g.100239231A>G | GRCh37 |
| NC_000004.10:g.100458254A>G | NCBI36 |
| NG_011435.1:g.8342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305046.13:c.231T>C MANE Select | ENSP00000306606.8:p.Val77= | |
| ENST00000639454.1:c.231T>C | ENSP00000491622.1:p.Val77= | |
| ENST00000305046.12:c.231T>C | ENSP00000306606.8:p.Val77= | |
| ENST00000504498.1:n.285T>C | ||
| ENST00000506651.5:c.111T>C | ENSP00000425998.2:p.Val37= | |
| ENST00000515694.4:n.2326T>C | ||
| ENST00000625860.2:c.111T>C | ENSP00000486614.1:p.Val37= | |
| ENST00000632775.1:n.794T>C | ||
| NM_000668.5:c.231T>C | NP_000659.2:p.Val77= | |
| NM_001286650.1:c.111T>C | NP_001273579.1:p.Val37= | |
| NM_000668.6:c.231T>C MANE Select | NP_000659.2:p.Val77= | |
| NM_001286650.2:c.111T>C | NP_001273579.1:p.Val37= |