gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000376 (SAS)
Exomes Max Group AF
0.00000398 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518266C>A , CM000669.2:g.92518266C>A | GRCh38 |
| NC_000007.13:g.92147580C>A , CM000669.1:g.92147580C>A | GRCh37 |
| NC_000007.12:g.91985516C>A | NCBI36 |
| NG_008341.1:g.15266G>T | |
| NG_008341.2:g.15266G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.358-11G>T MANE Select | ENSP00000248633.4:n.358-11G>T | |
| ENST00000248633.8:c.358-11G>T | ENSP00000248633.4:n.358-11G>T | |
| ENST00000428214.5:c.358-11G>T | ENSP00000394413.1:n.358-11G>T | |
| ENST00000438045.5:c.273+3836G>T | ENSP00000410438.1:n.273+3836G>T | |
| ENST00000484913.5:n.397-11G>T | ||
| NM_000466.2:c.358-11G>T | NP_000457.1:n.358-11G>T | |
| NM_001282677.1:c.358-11G>T | NP_001269606.1:n.358-11G>T | |
| NM_001282678.1:c.-267-11G>T | NP_001269607.1:n.-267-11G>T | |
| XR_242246.3:n.454-11G>T | ||
| XR_242246.5:n.405-11G>T | ||
| NM_000466.3:c.358-11G>T MANE Select | NP_000457.1:n.358-11G>T | |
| NM_001282677.2:c.358-11G>T | NP_001269606.1:n.358-11G>T | |
| NM_001282678.2:c.-267-11G>T | NP_001269607.1:n.-267-11G>T |