gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93141192 (NFE)
Genomes Max Group AF
0.93141192 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147774805G>T , CM000666.2:g.147774805G>T | GRCh38 |
| NC_000004.11:g.148695956G>T , CM000666.1:g.148695956G>T | GRCh37 |
| NC_000004.10:g.148915406G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336498.8:c.154+42350G>T MANE Select | ENSP00000336923.3:n.154+42350G>T | |
| ENST00000336498.7:c.154+42350G>T | ENSP00000336923.3:n.154+42350G>T | |
| ENST00000510379.1:n.393+42350G>T | ||
| NM_024605.3:c.154+42350G>T | NP_078881.3:n.154+42350G>T | |
| XM_005263215.2:c.154+42350G>T | XP_005263272.1:n.154+42350G>T | |
| XM_005263217.2:c.154+42350G>T | XP_005263274.1:n.154+42350G>T | |
| XM_005263215.3:c.154+42350G>T | XP_005263272.1:n.154+42350G>T | |
| XM_017008602.1:c.-290+42350G>T | XP_016864091.1:n.-290+42350G>T | |
| XR_001741324.1:n.393+42350G>T | ||
| NM_024605.4:c.154+42350G>T MANE Select | NP_078881.3:n.154+42350G>T |