gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00839423 (AFR)
Genomes Max Group AF
0.00771568 (AFR)
Exomes Max Group AF
0.00872621 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769540T>C , CM000667.2:g.13769540T>C | GRCh38 |
| NC_000005.9:g.13769649T>C , CM000667.1:g.13769649T>C | GRCh37 |
| NC_000005.8:g.13822649T>C | NCBI36 |
| NG_013081.1:g.179941A>G | |
| NG_013081.2:g.179941A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9681A>G MANE Select | ENSP00000265104.4:p.Lys3227= | |
| ENST00000681290.1:c.9636A>G | ENSP00000505288.1:p.Lys3212= | |
| ENST00000265104.4:c.9681A>G | ENSP00000265104.4:p.Lys3227= | |
| ENST00000504001.3:n.393A>G | ||
| NM_001369.2:c.9681A>G | NP_001360.1:p.Lys3227= | |
| XM_005248262.2:c.9636A>G | XP_005248319.1:p.Lys3212= | |
| XM_005248262.3:c.9789A>G | XP_005248319.2:p.Lys3263= | |
| XM_017009177.1:c.9789A>G | XP_016864666.1:p.Lys3263= | |
| XM_017009178.1:c.8694A>G | XP_016864667.1:p.Lys2898= | |
| XM_017009179.2:c.8694A>G | XP_016864668.1:p.Lys2898= | |
| XM_017009180.1:c.9789A>G | XP_016864669.1:p.Lys3263= | |
| XM_017009181.1:c.9789A>G | XP_016864670.1:p.Lys3263= | |
| XM_017009182.1:c.9789A>G | XP_016864671.1:p.Lys3263= | |
| XM_017009185.1:c.4878A>G | XP_016864674.1:p.Lys1626= | |
| XM_017009186.1:c.4431A>G | XP_016864675.1:p.Lys1477= | |
| XM_017009188.1:c.3768A>G | XP_016864677.1:p.Lys1256= | |
| XM_024454388.1:c.8694A>G | XP_024310156.1:p.Lys2898= | |
| XM_024454389.1:c.8283A>G | XP_024310157.1:p.Lys2761= | |
| NM_001369.3:c.9681A>G MANE Select | NP_001360.1:p.Lys3227= |