gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41449153 (SAS)
Genomes Max Group AF
0.41449153 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21549423C>T , CM000663.2:g.21549423C>T | GRCh38 |
| NC_000001.10:g.21875916C>T , CM000663.1:g.21875916C>T | GRCh37 |
| NC_000001.9:g.21748503C>T | NCBI36 |
| NG_008940.1:g.45059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696766.1:c.119+1901C>T | ENSP00000512858.1:n.119+1901C>T | |
| ENST00000374840.8:c.-104-4555C>T MANE Select | ENSP00000363973.3:n.-104-4555C>T | |
| ENST00000374840.7:c.-104-4555C>T | ENSP00000363973.3:n.-104-4555C>T | |
| ENST00000468526.1:n.122-11203C>T | ||
| ENST00000539907.5:c.-54-11203C>T | ENSP00000437674.1:n.-54-11203C>T | |
| ENST00000540617.5:c.-104-11203C>T | ENSP00000442672.1:n.-104-11203C>T | |
| NM_000478.4:c.-104-4555C>T | NP_000469.3:n.-104-4555C>T | |
| NM_001127501.2:c.-104-11203C>T | NP_001120973.2:n.-104-11203C>T | |
| NM_001177520.1:c.-54-11203C>T | NP_001170991.1:n.-54-11203C>T | |
| XM_005245818.1:c.-104-4555C>T | XP_005245875.1:n.-104-4555C>T | |
| XM_005245820.2:c.-104-4555C>T | XP_005245877.1:n.-104-4555C>T | |
| XR_947045.1:n.432+1400G>A | ||
| NM_000478.5:c.-104-4555C>T | NP_000469.3:n.-104-4555C>T | |
| NM_001127501.3:c.-104-11203C>T | NP_001120973.2:n.-104-11203C>T | |
| NM_001177520.2:c.-54-11203C>T | NP_001170991.1:n.-54-11203C>T | |
| NM_000478.6:c.-104-4555C>T MANE Select | NP_000469.3:n.-104-4555C>T | |
| NM_001127501.4:c.-104-11203C>T | NP_001120973.2:n.-104-11203C>T | |
| NM_001177520.3:c.-54-11203C>T | NP_001170991.1:n.-54-11203C>T | |
| NM_001369804.2:c.-104-4555C>T | NP_001356733.1:n.-104-4555C>T | |
| NM_001369805.2:c.-104-4555C>T | NP_001356734.1:n.-104-4555C>T |