gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45014136 (NFE)
Genomes Max Group AF
0.45014136 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153071533G>A , CM000663.2:g.153071533G>A | GRCh38 |
| NC_000001.10:g.153044009G>A , CM000663.1:g.153044009G>A | GRCh37 |
| NC_000001.9:g.151310633G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368755.3:c.-20+36C>T MANE Select | ENSP00000357744.1:n.-20+36C>T | |
| NM_001017418.2:c.-20+32C>T | NP_001017418.1:n.-20+32C>T | |
| XM_017002174.1:c.-20+36C>T | XP_016857663.1:n.-20+36C>T | |
| NM_001017418.3:c.-20+32C>T | NP_001017418.1:n.-20+32C>T | |
| NM_001388198.1:c.-20+36C>T MANE Select | NP_001375127.1:n.-20+36C>T |