ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00124578 (EAS)
Genomes Max Group AF
0.00104308 (EAS)
Exomes Max Group AF
0.0011824 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136677424C>A , CM000671.2:g.136677424C>A | GRCh38 |
| NC_000009.11:g.139571876C>A , CM000671.1:g.139571876C>A | GRCh37 |
| NC_000009.10:g.138691697C>A | NCBI36 |
| NG_008090.1:g.15036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.315G>T MANE Select | ENSP00000360761.2:p.Met105Ile | |
| ENST00000371694.7:c.315G>T | ENSP00000360759.3:p.Met105Ile | |
| ENST00000371696.6:c.315G>T | ENSP00000360761.2:p.Met105Ile | |
| ENST00000470861.1:n.323G>T | ||
| ENST00000538402.1:c.315G>T | ENSP00000438919.1:p.Met105Ile | |
| NM_001012727.1:c.315G>T | NP_001012745.1:p.Met105Ile | |
| NM_006412.3:c.315G>T | NP_006403.2:p.Met105Ile | |
| NM_006412.4:c.315G>T MANE Select | NP_006403.2:p.Met105Ile | |
| NM_001012727.2:c.315G>T | NP_001012745.1:p.Met105Ile |