gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00736534 (NFE)
Genomes Max Group AF
0.00585643 (NFE)
Exomes Max Group AF
0.00743116 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5625766G>T , CM000666.2:g.5625766G>T | GRCh38 |
| NC_000004.11:g.5627493G>T , CM000666.1:g.5627493G>T | GRCh37 |
| NC_000004.10:g.5678394G>T | NCBI36 |
| NG_015821.1:g.88783C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2029C>A MANE Select | ENSP00000342144.5:p.Arg677= | |
| ENST00000310917.6:c.1789C>A | ENSP00000311683.2:p.Arg597= | |
| ENST00000344408.9:c.2029C>A | ENSP00000342144.5:p.Arg677= | |
| ENST00000475313.5:c.1789C>A | ENSP00000431981.1:p.Arg597= | |
| ENST00000509670.1:c.*422C>A | ENSP00000423876.1:n.*422C>A | |
| NM_001166136.1:c.1789C>A | NP_001159608.1:p.Arg597= | |
| NM_147127.4:c.2029C>A | NP_667338.3:p.Arg677= | |
| XM_011513392.1:c.2038C>A | XP_011511694.1:p.Arg680= | |
| XM_011513393.1:c.2038C>A | XP_011511695.1:p.Arg680= | |
| XM_011513394.1:c.1798C>A | XP_011511696.1:p.Arg600= | |
| XM_017007736.1:c.1789C>A | XP_016863225.1:p.Arg597= | |
| XM_017007737.1:c.1789C>A | XP_016863226.1:p.Arg597= | |
| XM_017007738.1:c.2029C>A | XP_016863227.1:p.Arg677= | |
| XM_017007739.1:c.349C>A | XP_016863228.1:p.Arg117= | |
| XM_024453893.1:c.349C>A | XP_024309661.1:p.Arg117= | |
| XR_001741141.1:n.2094C>A | ||
| NM_147127.5:c.2029C>A MANE Select | NP_667338.3:p.Arg677= | |
| NM_001166136.2:c.1789C>A | NP_001159608.1:p.Arg597= |