ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009223 (AFR)
Genomes Max Group AF
0.00006283 (AFR)
Exomes Max Group AF
0.00007728 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23203692C>T , CM000675.2:g.23203692C>T | GRCh38 |
| NC_000013.10:g.23777831C>T , CM000675.1:g.23777831C>T | GRCh37 |
| NC_000013.9:g.22675831C>T | NCBI36 |
| NG_008759.1:g.27772C>T , LRG_207:g.27772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218867.4:c.1-3C>T MANE Select | ENSP00000218867.3:n.1-3C>T | |
| ENST00000218867.3:c.1-3C>T | ENSP00000218867.3:n.1-3C>T | |
| NM_000231.2:c.1-3C>T , LRG_207t1:c.1-3C>T | NP_000222.1:n.1-3C>T | |
| XM_005266505.2:c.1-3C>T | XP_005266562.1:n.1-3C>T | |
| XM_006719861.2:c.55-3C>T | XP_006719924.1:n.55-3C>T | |
| XM_006719861.3:c.55-3C>T | XP_006719924.1:n.55-3C>T | |
| XM_024449397.1:c.1-3C>T | XP_024305165.1:n.1-3C>T | |
| NM_000231.3:c.1-3C>T MANE Select | NP_000222.2:n.1-3C>T | |
| NM_001378244.1:c.55-3C>T | NP_001365173.1:n.55-3C>T | |
| NM_001378245.1:c.1-3C>T | NP_001365174.1:n.1-3C>T | |
| NM_001378246.1:c.1-3C>T | NP_001365175.1:n.1-3C>T |