gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.000154 (EAS)
Genomes Max Group AF
0.00002849 (NFE)
Exomes Max Group AF
0.00017456 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13913917T>C , CM000667.2:g.13913917T>C | GRCh38 |
| NC_000005.9:g.13914026T>C , CM000667.1:g.13914026T>C | GRCh37 |
| NC_000005.8:g.13967026T>C | NCBI36 |
| NG_013081.1:g.35564A>G | |
| NG_013081.2:g.35564A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1418A>G | ||
| ENST00000682376.1:n.5591A>G | ||
| ENST00000683011.1:n.1301A>G | ||
| ENST00000683967.1:n.3727A>G | ||
| ENST00000684013.1:n.2022A>G | ||
| ENST00000684099.1:n.2018A>G | ||
| ENST00000265104.5:c.1362A>G MANE Select | ENSP00000265104.4:p.Lys454= | |
| ENST00000680213.1:c.1122A>G | ENSP00000506622.1:p.Lys374= | |
| ENST00000681290.1:c.1317A>G | ENSP00000505288.1:p.Lys439= | |
| ENST00000265104.4:c.1362A>G | ENSP00000265104.4:p.Lys454= | |
| ENST00000508040.1:n.1770A>G | ||
| NM_001369.2:c.1362A>G | NP_001360.1:p.Lys454= | |
| XM_005248262.2:c.1317A>G | XP_005248319.1:p.Lys439= | |
| XM_011513990.1:c.1362A>G | XP_011512292.1:p.Lys454= | |
| XR_925598.1:n.1569A>G | ||
| XM_005248262.3:c.1470A>G | XP_005248319.2:p.Lys490= | |
| XM_017009177.1:c.1470A>G | XP_016864666.1:p.Lys490= | |
| XM_017009178.1:c.375A>G | XP_016864667.1:p.Lys125= | |
| XM_017009179.2:c.375A>G | XP_016864668.1:p.Lys125= | |
| XM_017009180.1:c.1470A>G | XP_016864669.1:p.Lys490= | |
| XM_017009181.1:c.1470A>G | XP_016864670.1:p.Lys490= | |
| XM_017009182.1:c.1470A>G | XP_016864671.1:p.Lys490= | |
| XM_017009183.1:c.1470A>G | XP_016864672.1:p.Lys490= | |
| XM_017009184.1:c.1470A>G | XP_016864673.1:p.Lys490= | |
| XM_017009187.1:c.1470A>G | XP_016864676.1:p.Lys490= | |
| XM_024454388.1:c.375A>G | XP_024310156.1:p.Lys125= | |
| XM_024454389.1:c.-37A>G | XP_024310157.1:n.-37A>G | |
| XR_001742034.1:n.1487A>G | ||
| XR_001742035.1:n.1487A>G | ||
| NM_001369.3:c.1362A>G MANE Select | NP_001360.1:p.Lys454= |