gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00084409 (AMR)
Genomes Max Group AF
0.00086635 (AMR)
Exomes Max Group AF
0.00073628 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425818C>T , CM000669.2:g.94425818C>T | GRCh38 |
| NC_000007.13:g.94055130C>T , CM000669.1:g.94055130C>T | GRCh37 |
| NC_000007.12:g.93893066C>T | NCBI36 |
| NG_007405.1:g.36258C>T , LRG_2:g.36258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2904C>T MANE Select | ENSP00000297268.6:p.Pro968= | |
| ENST00000297268.10:c.2904C>T | ENSP00000297268.6:p.Pro968= | |
| ENST00000478215.1:n.463C>T | ||
| ENST00000481570.5:n.2877C>T | ||
| ENST00000620463.1:c.2898C>T | ENSP00000477719.1:p.Pro966= | |
| NM_000089.3:c.2904C>T , LRG_2t1:c.2904C>T | NP_000080.2:p.Pro968= | |
| NM_000089.4:c.2904C>T MANE Select | NP_000080.2:p.Pro968= |