ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20188541 (NFE)
Genomes Max Group AF
0.20309691 (NFE)
Exomes Max Group AF
0.20165815 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44513639A>G , CM000669.2:g.44513639A>G | GRCh38 |
| NC_000007.13:g.44553238A>G , CM000669.1:g.44553238A>G | GRCh37 |
| NC_000007.12:g.44519763A>G | NCBI36 |
| NG_013088.1:g.32677T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381160.8:c.3807T>C MANE Select | ENSP00000370552.3:p.Val1269= | |
| ENST00000289547.8:c.3888T>C | ENSP00000289547.4:p.Val1296= | |
| ENST00000381160.7:c.3807T>C | ENSP00000370552.3:p.Val1269= | |
| ENST00000546276.5:c.3669T>C | ENSP00000438033.1:p.Val1223= | |
| NM_001101648.1:c.3807T>C | NP_001095118.1:p.Val1269= | |
| NM_013389.2:c.3888T>C | NP_037521.2:p.Val1296= | |
| XM_011515326.1:c.3612T>C | XP_011513628.1:p.Val1204= | |
| XM_011515328.1:c.2166T>C | XP_011513630.1:p.Val722= | |
| XM_011515326.3:c.3612T>C | XP_011513628.1:p.Val1204= | |
| XM_011515328.2:c.2166T>C | XP_011513630.1:p.Val722= | |
| NM_001101648.2:c.3807T>C MANE Select | NP_001095118.1:p.Val1269= | |
| NM_013389.3:c.3888T>C | NP_037521.2:p.Val1296= |