gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01313169 (MID)
Genomes Max Group AF
0.0026626 (AMR)
Exomes Max Group AF
0.013802 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178500T>C , CM000665.2:g.149178500T>C | GRCh38 |
| NC_000003.11:g.148896287T>C , CM000665.1:g.148896287T>C | GRCh37 |
| NC_000003.10:g.150378977T>C | NCBI36 |
| NG_011800.1:g.48546A>G | |
| NG_011800.2:g.48546A>G | |
| NG_011800.3:g.48546A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2793A>G MANE Select | ENSP00000264613.6:p.Leu931= | |
| ENST00000264613.10:c.2793A>G | ENSP00000264613.6:p.Leu931= | |
| ENST00000460674.5:n.710A>G | ||
| ENST00000463556.5:n.315A>G | ||
| ENST00000479771.5:c.198A>G | ENSP00000420367.1:p.Leu66= | |
| ENST00000481169.5:c.2580A>G | ENSP00000418773.1:p.Leu860= | |
| ENST00000490639.5:n.2825A>G | ||
| ENST00000494544.1:c.2142A>G | ENSP00000420545.1:p.Leu714= | |
| NM_000096.3:c.2793A>G | NP_000087.1:p.Leu931= | |
| NR_046371.1:n.2833A>G | ||
| XM_006713499.2:c.2793A>G | XP_006713562.1:p.Leu931= | |
| XM_006713500.2:c.2793A>G | XP_006713563.1:p.Leu931= | |
| XM_006713501.2:c.2793A>G | XP_006713564.1:p.Leu931= | |
| XM_011512435.1:c.2793A>G | XP_011510737.1:p.Leu931= | |
| XR_427361.2:n.3051A>G | ||
| XM_006713499.3:c.2793A>G | XP_006713562.1:p.Leu931= | |
| XM_006713500.4:c.2793A>G | XP_006713563.1:p.Leu931= | |
| XM_006713501.3:c.2793A>G | XP_006713564.1:p.Leu931= | |
| XM_011512435.2:c.2793A>G | XP_011510737.1:p.Leu931= | |
| XM_017005734.2:c.2793A>G | XP_016861223.1:p.Leu931= | |
| XM_017005735.2:c.2793A>G | XP_016861224.1:p.Leu931= | |
| XR_427361.3:n.3009A>G | ||
| NM_000096.4:c.2793A>G MANE Select | NP_000087.2:p.Leu931= | |
| NR_046371.2:n.2617A>G |