gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001572 (NFE)
Exomes Max Group AF
0.00001669 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32645011T>A , CM000683.2:g.32645011T>A | GRCh38 |
| NC_000021.8:g.34017321T>A , CM000683.1:g.34017321T>A | GRCh37 |
| NC_000021.7:g.32939192T>A | NCBI36 |
| NG_030017.1:g.88031A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.3509-5A>T | ENSP00000371939.2:n.3509-5A>T | |
| ENST00000433931.7:c.3509-5A>T | ENSP00000409667.2:n.3509-5A>T | |
| ENST00000630077.3:c.3376+635A>T | ENSP00000487560.1:n.3376+635A>T | |
| ENST00000674204.1:c.3392-5A>T | ENSP00000501504.1:n.3392-5A>T | |
| ENST00000674308.1:c.3392-5A>T | ENSP00000501426.1:n.3392-5A>T | |
| ENST00000674351.1:c.3392-5A>T MANE Select | ENSP00000501530.1:n.3392-5A>T | |
| ENST00000357345.7:c.3392-5A>T | ENSP00000349903.3:n.3392-5A>T | |
| ENST00000382491.7:c.3376+635A>T | ENSP00000371931.4:n.3376+635A>T | |
| ENST00000382499.6:c.3509-5A>T | ENSP00000371939.2:n.3509-5A>T | |
| ENST00000433931.6:c.3509-5A>T | ENSP00000409667.2:n.3509-5A>T | |
| ENST00000438952.5:c.66-5A>T | ||
| ENST00000630077.2:c.3376+635A>T | ENSP00000487560.1:n.3376+635A>T | |
| NM_001160302.1:c.3392-5A>T | NP_001153774.1:n.3392-5A>T | |
| NM_001160306.1:c.3376+635A>T | NP_001153778.1:n.3376+635A>T | |
| NM_003895.3:c.3509-5A>T | NP_003886.3:n.3509-5A>T | |
| NM_203446.2:c.3509-5A>T | NP_982271.2:n.3509-5A>T | |
| XM_017028494.1:c.3392-5A>T | XP_016883983.1:n.3392-5A>T | |
| XM_017028495.2:c.3494-5A>T | XP_016883984.1:n.3494-5A>T | |
| XM_017028496.1:c.3391+635A>T | XP_016883985.1:n.3391+635A>T | |
| XM_017028497.2:c.3509-5A>T | XP_016883986.1:n.3509-5A>T | |
| XM_017028498.1:c.3391+635A>T | XP_016883987.1:n.3391+635A>T | |
| XM_017028499.2:c.3493+635A>T | XP_016883988.1:n.3493+635A>T | |
| XM_017028500.1:c.3392-5A>T | XP_016883989.1:n.3392-5A>T | |
| XM_017028501.1:c.3392-5A>T | XP_016883990.1:n.3392-5A>T | |
| XM_017028502.1:c.3392-5A>T | XP_016883991.1:n.3392-5A>T | |
| XM_017028503.1:c.3391+635A>T | XP_016883992.1:n.3391+635A>T | |
| XM_017028504.1:c.3391+635A>T | XP_016883993.1:n.3391+635A>T | |
| XM_017028505.2:c.3493+635A>T | XP_016883994.1:n.3493+635A>T | |
| NM_001160306.2:c.3376+635A>T | NP_001153778.1:n.3376+635A>T | |
| NM_203446.3:c.3392-5A>T MANE Select | NP_982271.3:n.3392-5A>T |