gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83259961 (NFE)
Genomes Max Group AF
0.83259961 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64281440C>T , CM000673.2:g.64281440C>T | GRCh38 |
| NC_000011.9:g.64048912C>T , CM000673.1:g.64048912C>T | GRCh37 |
| NC_000011.8:g.63805488C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309032.8:c.187+2742G>A (BAD) MANE Select | ENSP00000309103.3:n.187+2742G>A | |
| ENST00000309032.7:c.187+2742G>A (BAD) | ENSP00000309103.3:n.187+2742G>A | |
| ENST00000394531.3:c.187+2742G>A (BAD) | ENSP00000378039.3:n.187+2742G>A | |
| ENST00000394532.7:c.187+2742G>A (BAD) | ENSP00000378040.3:n.187+2742G>A | |
| ENST00000538244.1:c.-16+5019C>T (GPR137) | ENSP00000442322.1:n.-16+5019C>T | |
| ENST00000544271.1:n.269+2742G>A (BAD) | ||
| ENST00000544785.1:c.187+2742G>A (BAD) | ENSP00000440575.1:n.187+2742G>A | |
| ENST00000546139.5:c.4-5070C>T (GPR137) | ENSP00000445570.1:n.4-5070C>T | |
| NM_004322.3:c.187+2742G>A (BAD) | NP_004313.1:n.187+2742G>A | |
| NM_032989.2:c.187+2742G>A (BAD) | NP_116784.1:n.187+2742G>A | |
| XM_011545168.1:c.4-5070C>T (GPR137) | XP_011543470.1:n.4-5070C>T | |
| XM_011545170.1:c.4-5070C>T (GPR137) | XP_011543472.1:n.4-5070C>T | |
| XM_011545171.1:c.4-5070C>T (GPR137) | XP_011543473.1:n.4-5070C>T | |
| XM_011545172.1:c.4-5070C>T (GPR137) | XP_011543474.1:n.4-5070C>T | |
| XM_011545168.2:c.4-5070C>T (GPR137) | XP_011543470.1:n.4-5070C>T | |
| XM_011545170.2:c.4-5070C>T (GPR137) | XP_011543472.1:n.4-5070C>T | |
| XM_011545171.2:c.4-5070C>T (GPR137) | XP_011543473.1:n.4-5070C>T | |
| XM_011545172.2:c.4-5070C>T (GPR137) | XP_011543474.1:n.4-5070C>T | |
| XM_017018016.1:c.4-5070C>T (GPR137) | XP_016873505.1:n.4-5070C>T | |
| XM_024448611.1:c.4-5070C>T (GPR137) | XP_024304379.1:n.4-5070C>T | |
| NM_032989.3:c.187+2742G>A (BAD) MANE Select | NP_116784.1:n.187+2742G>A | |
| NM_001378076.1:c.-15-5070C>T (GPR137) | NP_001365005.1:n.-15-5070C>T | |
| NM_001378078.1:c.-15-5070C>T (GPR137) | NP_001365007.1:n.-15-5070C>T | |
| NM_001378084.1:c.-15-5070C>T (GPR137) | NP_001365013.1:n.-15-5070C>T |