gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018986 (SAS)
Exomes Max Group AF
0.00019167 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30671879C>T , CM000665.2:g.30671879C>T | GRCh38 |
| NC_000003.11:g.30713371C>T , CM000665.1:g.30713371C>T | GRCh37 |
| NC_000003.10:g.30688375C>T | NCBI36 |
| NG_007490.1:g.70378C>T , LRG_779:g.70378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.696C>T MANE Select | ENSP00000295754.5:p.Ala232= | |
| ENST00000672866.1:n.2292C>T | ||
| ENST00000295754.9:c.696C>T | ENSP00000295754.5:p.Ala232= | |
| ENST00000359013.4:c.771C>T | ENSP00000351905.4:p.Ala257= | |
| NM_001024847.2:c.771C>T , LRG_779t1:c.771C>T | NP_001020018.1:p.Ala257= | |
| NM_003242.5:c.696C>T | NP_003233.4:p.Ala232= | |
| XM_011534043.1:c.723C>T | XP_011532345.1:p.Ala241= | |
| XM_011534044.1:c.648C>T | XP_011532346.1:p.Ala216= | |
| XM_011534045.1:c.591C>T | XP_011532347.1:p.Ala197= | |
| XM_011534043.2:c.723C>T | XP_011532345.1:p.Ala241= | |
| XM_011534045.3:c.591C>T | XP_011532347.1:p.Ala197= | |
| XM_017007106.1:c.591C>T | XP_016862595.1:p.Ala197= | |
| NM_003242.6:c.696C>T MANE Select | NP_003233.4:p.Ala232= |