ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000299 (NFE)
Exomes Max Group AF
0.00000318 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673929T>G , CM000671.2:g.136673929T>G | GRCh38 |
| NC_000009.11:g.139568381T>G , CM000671.1:g.139568381T>G | GRCh37 |
| NC_000009.10:g.138688202T>G | NCBI36 |
| NG_008090.1:g.18531A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.662-2A>C MANE Select | ENSP00000360761.2:n.662-2A>C | |
| ENST00000371694.7:c.566-2A>C | ENSP00000360759.3:n.566-2A>C | |
| ENST00000371696.6:c.662-2A>C | ENSP00000360761.2:n.662-2A>C | |
| ENST00000472820.1:n.590-2A>C | ||
| ENST00000538402.1:c.662-2A>C | ENSP00000438919.1:n.662-2A>C | |
| NM_001012727.1:c.566-2A>C | NP_001012745.1:n.566-2A>C | |
| NM_006412.3:c.662-2A>C | NP_006403.2:n.662-2A>C | |
| NM_006412.4:c.662-2A>C MANE Select | NP_006403.2:n.662-2A>C | |
| NM_001012727.2:c.566-2A>C | NP_001012745.1:n.566-2A>C |