gnomAD v4:
Joint Max Group AF
0.00000691 (NFE)
Exomes Max Group AF
0.00000733 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56453154T>G , CM000674.2:g.56453154T>G | GRCh38 |
| NC_000012.11:g.56846938T>G , CM000674.1:g.56846938T>G | GRCh37 |
| NC_000012.10:g.55133205T>G | NCBI36 |
| NG_021397.1:g.6498A>C | |
| NG_021397.2:g.21013A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*150-2A>C | ENSP00000497190.1:n.*150-2A>C | |
| ENST00000648442.1:n.659-2A>C | ||
| ENST00000650166.1:n.415-2A>C | ||
| ENST00000652304.1:c.526-2A>C MANE Select | ENSP00000498622.1:n.526-2A>C | |
| ENST00000257979.4:c.526-2A>C | ENSP00000257979.4:n.526-2A>C | |
| ENST00000555551.1:n.482-2A>C | ||
| NM_012064.3:c.526-2A>C | NP_036196.1:n.526-2A>C | |
| XM_011538354.1:c.241-2A>C | XP_011536656.1:n.241-2A>C | |
| NM_012064.4:c.526-2A>C MANE Select | NP_036196.1:n.526-2A>C | |
| XM_017019306.1:c.169-2A>C | XP_016874795.1:n.169-2A>C |