gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2106966 (NFE)
Genomes Max Group AF
0.2106966 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39271450C>T , CM000665.2:g.39271450C>T | GRCh38 |
| NC_000003.11:g.39312941C>T , CM000665.1:g.39312941C>T | GRCh37 |
| NC_000003.10:g.39287945C>T | NCBI36 |
| NG_016362.1:g.15286G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.-9-4932G>A MANE Select | ENSP00000382166.3:n.-9-4932G>A | |
| ENST00000358309.3:c.88-4932G>A | ENSP00000351059.3:n.88-4932G>A | |
| ENST00000399220.2:c.-9-4932G>A | ENSP00000382166.2:n.-9-4932G>A | |
| ENST00000412814.1:c.-9-4932G>A | ENSP00000408835.1:n.-9-4932G>A | |
| ENST00000435290.1:c.-9-4932G>A | ENSP00000394960.1:n.-9-4932G>A | |
| ENST00000541347.5:c.-9-4932G>A | ENSP00000439140.1:n.-9-4932G>A | |
| ENST00000542107.5:c.-9-4932G>A | ENSP00000444928.1:n.-9-4932G>A | |
| NM_001171171.1:c.-9-4932G>A | NP_001164642.1:n.-9-4932G>A | |
| NM_001171172.1:c.-9-4932G>A | NP_001164643.1:n.-9-4932G>A | |
| NM_001171174.1:c.88-4932G>A | NP_001164645.1:n.88-4932G>A | |
| NM_001337.3:c.-9-4932G>A | NP_001328.1:n.-9-4932G>A | |
| NM_001337.4:c.-9-4932G>A MANE Select | NP_001328.1:n.-9-4932G>A | |
| NM_001171171.2:c.-9-4932G>A | NP_001164642.1:n.-9-4932G>A | |
| NM_001171172.2:c.-9-4932G>A | NP_001164643.1:n.-9-4932G>A |