gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13882994T>C , CM000667.2:g.13882994T>C | GRCh38 |
| NC_000005.9:g.13883103T>C , CM000667.1:g.13883103T>C | GRCh37 |
| NC_000005.8:g.13936103T>C | NCBI36 |
| NG_013081.1:g.66487A>G | |
| NG_013081.2:g.66487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3084A>G MANE Select | ENSP00000265104.4:p.Glu1028= | |
| ENST00000681290.1:c.3039A>G | ENSP00000505288.1:p.Glu1013= | |
| ENST00000265104.4:c.3084A>G | ENSP00000265104.4:p.Glu1028= | |
| NM_001369.2:c.3084A>G | NP_001360.1:p.Glu1028= | |
| XM_005248262.2:c.3039A>G | XP_005248319.1:p.Glu1013= | |
| XM_011513990.1:c.3084A>G | XP_011512292.1:p.Glu1028= | |
| XR_925598.1:n.3291A>G | ||
| XM_005248262.3:c.3192A>G | XP_005248319.2:p.Glu1064= | |
| XM_017009177.1:c.3192A>G | XP_016864666.1:p.Glu1064= | |
| XM_017009178.1:c.2097A>G | XP_016864667.1:p.Glu699= | |
| XM_017009179.2:c.2097A>G | XP_016864668.1:p.Glu699= | |
| XM_017009180.1:c.3192A>G | XP_016864669.1:p.Glu1064= | |
| XM_017009181.1:c.3192A>G | XP_016864670.1:p.Glu1064= | |
| XM_017009182.1:c.3192A>G | XP_016864671.1:p.Glu1064= | |
| XM_017009183.1:c.3192A>G | XP_016864672.1:p.Glu1064= | |
| XM_017009184.1:c.3192A>G | XP_016864673.1:p.Glu1064= | |
| XM_017009187.1:c.3192A>G | XP_016864676.1:p.Glu1064= | |
| XM_024454388.1:c.2097A>G | XP_024310156.1:p.Glu699= | |
| XM_024454389.1:c.1686A>G | XP_024310157.1:p.Glu562= | |
| XR_001742034.1:n.3209A>G | ||
| XR_001742035.1:n.3209A>G | ||
| NM_001369.3:c.3084A>G MANE Select | NP_001360.1:p.Glu1028= |