gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002082 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35459333C>T , CM000668.2:g.35459333C>T | GRCh38 |
| NC_000006.11:g.35427110C>T , CM000668.1:g.35427110C>T | GRCh37 |
| NC_000006.10:g.35535088C>T | NCBI36 |
| NG_011708.1:g.11973C>T , LRG_498:g.11973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.1116C>T | ENSP00000512511.1:p.Ile372= | |
| ENST00000696265.1:c.1116C>T | ENSP00000512512.1:p.Ile372= | |
| ENST00000696266.1:c.765C>T | ENSP00000512513.1:p.Ile255= | |
| ENST00000696267.1:n.1383C>T | ||
| ENST00000229769.3:c.1116C>T MANE Select | ENSP00000229769.2:p.Ile372= | |
| ENST00000648059.1:c.1116C>T | ENSP00000497902.1:p.Ile372= | |
| ENST00000229769.2:c.1116C>T | ENSP00000229769.2:p.Ile372= | |
| NM_021922.2:c.1116C>T , LRG_498t1:c.1116C>T | NP_068741.1:p.Ile372= | |
| XM_005248885.2:c.1095C>T | XP_005248942.1:p.Ile365= | |
| XM_005248886.2:c.1047C>T | XP_005248943.1:p.Ile349= | |
| XM_005248887.2:c.1116C>T | XP_005248944.1:p.Ile372= | |
| XM_005248888.2:c.1116C>T | XP_005248945.1:p.Ile372= | |
| XM_011514343.1:c.822C>T | XP_011512645.1:p.Ile274= | |
| XM_011514344.1:c.822C>T | XP_011512646.1:p.Ile274= | |
| XM_005248888.3:c.1116C>T | XP_005248945.1:p.Ile372= | |
| XM_011514343.2:c.822C>T | XP_011512645.1:p.Ile274= | |
| XR_001743226.1:n.1323C>T | ||
| XR_002956267.1:n.1617C>T | ||
| NM_021922.3:c.1116C>T MANE Select | NP_068741.1:p.Ile372= |