gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037969 (AFR)
Genomes Max Group AF
0.00033758 (AFR)
Exomes Max Group AF
0.00032375 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68041758C>T , CM000673.2:g.68041758C>T | GRCh38 |
| NC_000011.9:g.67809225C>T , CM000673.1:g.67809225C>T | GRCh37 |
| NC_000011.8:g.67565801C>T | NCBI36 |
| NG_007878.1:g.7743C>T , LRG_115:g.7743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.123C>T | ENSP00000513629.1:p.Asn41= | |
| ENST00000698255.1:c.123C>T | ENSP00000513630.1:p.Asn41= | |
| ENST00000265686.8:c.123C>T MANE Select | ENSP00000265686.3:p.Asn41= | |
| ENST00000265686.7:c.123C>T | ENSP00000265686.3:p.Asn41= | |
| ENST00000524598.5:c.81C>T | ENSP00000432846.1:p.Asn27= | |
| ENST00000529657.1:c.123C>T | ENSP00000435023.1:p.Asn41= | |
| ENST00000533947.1:n.90C>T | ||
| ENST00000534673.5:c.123C>T | ENSP00000431174.1:p.Asn41= | |
| NM_006019.3:c.123C>T | NP_006010.2:p.Asn41= | |
| XM_005273709.2:c.123C>T | XP_005273766.1:p.Asn41= | |
| XM_011544726.1:c.123C>T | XP_011543028.1:p.Asn41= | |
| XM_011544727.1:c.123C>T | XP_011543029.1:p.Asn41= | |
| XM_011544728.1:c.123C>T | XP_011543030.1:p.Asn41= | |
| XM_011544729.1:c.123C>T | XP_011543031.1:p.Asn41= | |
| XR_949754.1:n.127C>T | ||
| NM_001351059.1:c.-1127C>T | NP_001337988.1:n.-1127C>T | |
| XM_024448320.1:c.123C>T | XP_024304088.1:p.Asn41= | |
| XM_024448321.1:c.123C>T | XP_024304089.1:p.Asn41= | |
| XM_024448322.1:c.123C>T | XP_024304090.1:p.Asn41= | |
| XM_024448323.1:c.123C>T | XP_024304091.1:p.Asn41= | |
| XM_024448324.1:c.123C>T | XP_024304092.1:p.Asn41= | |
| XR_001747721.2:n.247C>T | ||
| XR_001747722.1:n.244C>T | ||
| XR_001747723.2:n.244C>T | ||
| XR_002957115.1:n.245C>T | ||
| NM_006019.4:c.123C>T MANE Select | NP_006010.2:p.Asn41= | |
| NM_001351059.2:c.-1127C>T | NP_001337988.1:n.-1127C>T |