gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037886 (NFE)
Genomes Max Group AF
0.00039202 (NFE)
Exomes Max Group AF
0.00037063 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26466731G>T , CM000664.2:g.26466731G>T | GRCh38 |
| NC_000002.11:g.26689599G>T , CM000664.1:g.26689599G>T | GRCh37 |
| NC_000002.10:g.26543103G>T | NCBI36 |
| NG_009937.1:g.96968C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4483C>A MANE Select | ENSP00000272371.2:p.Arg1495= | |
| ENST00000339598.8:c.2182C>A MANE Plus Clinical | ENSP00000344521.3:p.Arg728= | |
| ENST00000402415.8:c.2242C>A | ENSP00000383906.4:p.Arg748= | |
| ENST00000272371.6:c.4483C>A | ENSP00000272371.2:p.Arg1495= | |
| ENST00000338581.10:c.2182C>A | ENSP00000345137.6:p.Arg728= | |
| ENST00000339598.7:c.2182C>A | ENSP00000344521.3:p.Arg728= | |
| ENST00000402415.7:c.2413C>A | ENSP00000383906.3:p.Arg805= | |
| ENST00000403946.7:c.4483C>A | ENSP00000385255.3:p.Arg1495= | |
| NM_001287489.1:c.4483C>A | NP_001274418.1:p.Arg1495= | |
| NM_004802.3:c.2182C>A | NP_004793.2:p.Arg728= | |
| NM_194248.2:c.4483C>A | NP_919224.1:p.Arg1495= | |
| NM_194322.2:c.2413C>A | NP_919303.1:p.Arg805= | |
| NM_194323.2:c.2182C>A | NP_919304.1:p.Arg728= | |
| XM_005264644.2:c.4468C>A | XP_005264701.1:p.Arg1490= | |
| XM_011533185.1:c.4528C>A | XP_011531487.1:p.Arg1510= | |
| XM_017005338.1:c.4423C>A | XP_016860827.1:p.Arg1475= | |
| NM_001287489.2:c.4483C>A | NP_001274418.1:p.Arg1495= | |
| NM_004802.4:c.2182C>A | NP_004793.2:p.Arg728= | |
| NM_194248.3:c.4483C>A MANE Select | NP_919224.1:p.Arg1495= | |
| NM_194322.3:c.2413C>A | NP_919303.1:p.Arg805= | |
| NM_194323.3:c.2182C>A MANE Plus Clinical | NP_919304.1:p.Arg728= |