gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37451434 (NFE)
Genomes Max Group AF
0.37451434 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.74578552T>C , CM000665.2:g.74578552T>C | GRCh38 |
| NC_000003.11:g.74627703T>C , CM000665.1:g.74627703T>C | GRCh37 |
| NC_000003.10:g.74710393T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263665.7:c.-81+35839A>G MANE Select | ENSP00000263665.6:n.-81+35839A>G | |
| XM_005264757.2:c.-81+35839A>G | XP_005264814.1:n.-81+35839A>G | |
| XM_005264758.2:c.-81+35839A>G | XP_005264815.1:n.-81+35839A>G | |
| XM_005264757.3:c.-81+35839A>G | XP_005264814.1:n.-81+35839A>G | |
| XM_017006507.1:c.-81+35196A>G | XP_016861996.1:n.-81+35196A>G | |
| NM_001393376.1:c.-81+35196A>G | NP_001380305.1:n.-81+35196A>G | |
| NM_020872.3:c.-81+35839A>G MANE Select | NP_065923.1:n.-81+35839A>G |