gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7572029A>T , CM000668.2:g.7572029A>T | GRCh38 |
| NC_000006.11:g.7572262A>T , CM000668.1:g.7572262A>T | GRCh37 |
| NC_000006.10:g.7517261A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.2091A>T | ENSP00000518230.1:p.Gly697= | |
| ENST00000684395.1:n.732A>T | ||
| ENST00000379802.8:c.2091A>T MANE Select | ENSP00000369129.3:p.Gly697= | |
| ENST00000379802.7:c.2091A>T | ENSP00000369129.3:p.Gly697= | |
| ENST00000418664.2:c.2091A>T | ENSP00000396591.2:p.Gly697= | |
| XM_011514323.1:c.2091A>T | XP_011512625.1:p.Gly697= | |
| NM_001008844.2:c.2091A>T | NP_001008844.1:p.Gly697= | |
| NM_001319034.1:c.2091A>T | NP_001305963.1:p.Gly697= | |
| NM_004415.3:c.2091A>T | NP_004406.2:p.Gly697= | |
| NM_004415.4:c.2091A>T MANE Select | NP_004406.2:p.Gly697= | |
| NM_001008844.3:c.2091A>T | NP_001008844.1:p.Gly697= | |
| NM_001319034.2:c.2091A>T | NP_001305963.1:p.Gly697= |