ClinGen Evidence Repository:
Classification
Pathogenic
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35860850A>T , CM000667.2:g.35860850A>T | GRCh38 |
| NC_000005.9:g.35860952A>T , CM000667.1:g.35860952A>T | GRCh37 |
| NC_000005.8:g.35896709A>T | NCBI36 |
| NG_009567.1:g.8962A>T , LRG_74:g.8962A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.83-2A>T MANE Select | ENSP00000306157.3:n.83-2A>T | |
| ENST00000303115.7:c.83-2A>T | ENSP00000306157.3:n.83-2A>T | |
| ENST00000506850.5:c.83-2A>T | ENSP00000421207.1:n.83-2A>T | |
| ENST00000508941.5:c.83-2A>T | ENSP00000426426.1:n.83-2A>T | |
| ENST00000511031.1:n.217-2A>T | ||
| ENST00000511982.1:c.83-2A>T | ENSP00000425309.1:n.83-2A>T | |
| ENST00000514217.5:c.83-2A>T | ENSP00000427688.1:n.83-2A>T | |
| ENST00000515665.1:c.83-2A>T | ENSP00000425538.1:n.83-2A>T | |
| NM_002185.3:c.83-2A>T | NP_002176.2:n.83-2A>T | |
| NR_120485.1:n.186-2A>T | ||
| XM_005248299.2:c.83-2A>T | XP_005248356.1:n.83-2A>T | |
| XM_005248300.1:c.83-2A>T | XP_005248357.1:n.83-2A>T | |
| XM_011514037.1:c.83-2A>T | XP_011512339.1:n.83-2A>T | |
| NM_002185.4:c.83-2A>T | NP_002176.2:n.83-2A>T | |
| NR_120485.2:n.212-2A>T | ||
| XM_005248299.4:c.83-2A>T | XP_005248356.1:n.83-2A>T | |
| NM_002185.5:c.83-2A>T MANE Select | NP_002176.2:n.83-2A>T | |
| NR_120485.3:n.170-2A>T |