gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003233 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.3575648C>T , CM000664.2:g.3575648C>T | GRCh38 |
| NC_000002.11:g.3623238C>T , CM000664.1:g.3623238C>T | GRCh37 |
| NC_000002.10:g.3601113C>T | NCBI36 |
| NG_011744.1:g.5386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407445.8:c.39C>T | ENSP00000385729.3:p.Gly13= | |
| ENST00000491937.6:n.85C>T | ||
| ENST00000645674.2:c.39C>T MANE Select | ENSP00000496757.1:p.Gly13= | |
| ENST00000646909.1:c.39C>T | ENSP00000496654.1:p.Gly13= | |
| ENST00000647131.1:c.39C>T | ENSP00000494995.1:p.Gly13= | |
| ENST00000304921.9:c.39C>T | ENSP00000339095.4:p.Gly13= | |
| ENST00000403564.5:c.39C>T | ENSP00000385018.1:p.Gly13= | |
| ENST00000406376.1:c.39C>T | ENSP00000385286.1:p.Gly13= | |
| ENST00000407445.7:c.39C>T | ENSP00000385729.3:p.Gly13= | |
| ENST00000462576.5:n.324C>T | ||
| ENST00000479123.1:n.16C>T | ||
| ENST00000481006.1:n.291C>T | ||
| ENST00000491937.5:n.304C>T | ||
| NM_001011.3:c.39C>T | NP_001002.1:p.Gly13= | |
| NM_001011.4:c.39C>T MANE Select | NP_001002.1:p.Gly13= |