gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36351156 (EAS)
Genomes Max Group AF
0.36351156 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139501980A>G , CM000666.2:g.139501980A>G | GRCh38 |
| NC_000004.11:g.140423134A>G , CM000666.1:g.140423134A>G | GRCh37 |
| NC_000004.10:g.140642584A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506866.6:c.921-5459T>C | ENSP00000427300.1:n.921-5459T>C | |
| ENST00000515101.1:n.279-5459T>C | ||
| NM_001306199.1:c.921-5459T>C | NP_001293128.1:n.921-5459T>C | |
| NM_001306199.2:c.921-5459T>C | NP_001293128.1:n.921-5459T>C |