gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24101362 (SAS)
Genomes Max Group AF
0.24101362 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33034667T>C , CM000671.2:g.33034667T>C | GRCh38 |
| NC_000009.11:g.33034665T>C , CM000671.1:g.33034665T>C | GRCh37 |
| NC_000009.10:g.33024665T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330899.5:c.758+337T>C MANE Select | ENSP00000369127.3:n.758+337T>C | |
| ENST00000330899.4:c.758+337T>C | ENSP00000369127.3:n.758+337T>C | |
| ENST00000465677.1:n.71+337T>C | ||
| ENST00000495015.5:n.213+337T>C | ||
| NM_001314039.1:c.287+337T>C | NP_001300968.1:n.287+337T>C | |
| NM_001539.2:c.758+337T>C | NP_001530.1:n.758+337T>C | |
| NM_001539.3:c.758+337T>C | NP_001530.1:n.758+337T>C | |
| NM_001539.4:c.758+337T>C MANE Select | NP_001530.1:n.758+337T>C | |
| NM_001314039.2:c.287+337T>C | NP_001300968.1:n.287+337T>C |