gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23494226 (SAS)
Genomes Max Group AF
0.23494226 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.153852211C>T , CM000669.2:g.153852211C>T | GRCh38 |
| NC_000007.13:g.153549296C>T , CM000669.1:g.153549296C>T | GRCh37 |
| NC_000007.12:g.153180229C>T | NCBI36 |
| NG_033878.2:g.109226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706130.1:c.60+103203C>T | ENSP00000516215.1:n.60+103203C>T | |
| NM_001364497.1:c.60+103203C>T | NP_001351426.1:n.60+103203C>T | |
| NM_001364498.1:c.60+103203C>T | NP_001351427.1:n.60+103203C>T | |
| NM_001364499.1:c.60+103203C>T | NP_001351428.1:n.60+103203C>T | |
| NM_001364500.1:c.60+103203C>T | NP_001351429.1:n.60+103203C>T | |
| NM_001364497.2:c.60+103203C>T | NP_001351426.1:n.60+103203C>T | |
| NM_001364498.2:c.60+103203C>T | NP_001351427.1:n.60+103203C>T | |
| NM_001364499.2:c.60+103203C>T | NP_001351428.1:n.60+103203C>T | |
| NM_001364500.2:c.60+103203C>T | NP_001351429.1:n.60+103203C>T |