gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001944 (NFE)
Genomes Max Group AF
0.00002869 (NFE)
Exomes Max Group AF
0.00001681 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541289A>G , CM000663.2:g.169541289A>G | GRCh38 |
| NC_000001.10:g.169510527A>G , CM000663.1:g.169510527A>G | GRCh37 |
| NC_000001.9:g.167777151A>G | NCBI36 |
| NG_011806.1:g.50243T>C , LRG_553:g.50243T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.3801T>C MANE Select | ENSP00000356771.3:p.Leu1267= | |
| ENST00000367796.3:c.3816T>C | ENSP00000356770.3:p.Leu1272= | |
| ENST00000367797.7:c.3801T>C | ENSP00000356771.3:p.Leu1267= | |
| NM_000130.4:c.3801T>C , LRG_553t1:c.3801T>C | NP_000121.2:p.Leu1267= | |
| XM_017000660.2:c.3390T>C | XP_016856149.1:p.Leu1130= | |
| NM_000130.5:c.3801T>C MANE Select | NP_000121.2:p.Leu1267= |