gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58556722 (AFR)
Genomes Max Group AF
0.58556722 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134417615C>T , CM000671.2:g.134417615C>T | GRCh38 |
| NC_000009.11:g.137309461C>T , CM000671.1:g.137309461C>T | GRCh37 |
| NC_000009.10:g.136449282C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.780+288C>T MANE Select | ENSP00000419692.1:n.780+288C>T | |
| ENST00000672570.1:c.699+288C>T | ENSP00000500402.1:n.699+288C>T | |
| ENST00000356384.4:n.1190+288C>T | ||
| ENST00000481739.1:c.780+288C>T | ENSP00000419692.1:n.780+288C>T | |
| NM_001291920.1:c.699+288C>T | NP_001278849.1:n.699+288C>T | |
| NM_001291921.1:c.489+288C>T | NP_001278850.1:n.489+288C>T | |
| NM_002957.5:c.780+288C>T | NP_002948.1:n.780+288C>T | |
| NM_002957.6:c.780+288C>T MANE Select | NP_002948.1:n.780+288C>T | |
| NM_001291921.2:c.489+288C>T | NP_001278850.1:n.489+288C>T | |
| NM_001291920.2:c.699+288C>T | NP_001278849.1:n.699+288C>T |