gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18264412 (AMR)
Genomes Max Group AF
0.18264412 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75448141C>T , CM000663.2:g.75448141C>T | GRCh38 |
| NC_000001.10:g.75913826C>T , CM000663.1:g.75913826C>T | GRCh37 |
| NC_000001.9:g.75686414C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370859.8:c.14-51520G>A MANE Select | ENSP00000359896.3:n.14-51520G>A | |
| ENST00000370855.5:c.14-51520G>A | ENSP00000359892.5:n.14-51520G>A | |
| ENST00000370859.7:c.14-51520G>A | ENSP00000359896.3:n.14-51520G>A | |
| ENST00000469525.1:n.140-49720G>A | ||
| NM_001130058.1:c.14-51520G>A | NP_001123530.1:n.14-51520G>A | |
| NM_152697.4:c.14-51520G>A | NP_689910.2:n.14-51520G>A | |
| XM_011540981.1:c.10-49720G>A | XP_011539283.1:n.10-49720G>A | |
| XM_011540982.1:c.10-49720G>A | XP_011539284.1:n.10-49720G>A | |
| XM_011540983.1:c.23-51520G>A | XP_011539285.1:n.23-51520G>A | |
| XM_011540984.1:c.14-51520G>A | XP_011539286.1:n.14-51520G>A | |
| XM_011540985.1:c.35-108511G>A | XP_011539287.1:n.35-108511G>A | |
| XM_011540987.1:c.-204-51520G>A | XP_011539289.1:n.-204-51520G>A | |
| XM_011540988.1:c.-271-49720G>A | XP_011539290.1:n.-271-49720G>A | |
| XM_011540989.1:c.-204-51520G>A | XP_011539291.1:n.-204-51520G>A | |
| XM_011540990.1:c.-271-49720G>A | XP_011539292.1:n.-271-49720G>A | |
| NM_001320283.1:c.35-108511G>A | NP_001307212.1:n.35-108511G>A | |
| NM_001320285.1:c.-271-49720G>A | NP_001307214.1:n.-271-49720G>A | |
| NM_001320287.1:c.-204-51520G>A | NP_001307216.1:n.-204-51520G>A | |
| XM_011540987.2:c.-204-51520G>A | XP_011539289.1:n.-204-51520G>A | |
| XM_017000607.1:c.35-51520G>A | XP_016856096.1:n.35-51520G>A | |
| XM_017000608.1:c.35-51520G>A | XP_016856097.1:n.35-51520G>A | |
| XM_017000609.1:c.14-51520G>A | XP_016856098.1:n.14-51520G>A | |
| XM_017000610.1:c.14-51520G>A | XP_016856099.1:n.14-51520G>A | |
| XM_017000611.1:c.14-51520G>A | XP_016856100.1:n.14-51520G>A | |
| NM_001130058.2:c.14-51520G>A MANE Select | NP_001123530.1:n.14-51520G>A | |
| NM_001320283.2:c.35-108511G>A | NP_001307212.1:n.35-108511G>A | |
| NM_001320285.2:c.-271-49720G>A | NP_001307214.1:n.-271-49720G>A | |
| NM_001320287.2:c.-204-51520G>A | NP_001307216.1:n.-204-51520G>A | |
| NM_152697.5:c.14-51520G>A | NP_689910.2:n.14-51520G>A | |
| NM_001320283.3:c.35-108511G>A | NP_001307212.1:n.35-108511G>A | |
| NM_001394064.1:c.35-108511G>A | NP_001380993.1:n.35-108511G>A | |
| NM_152697.6:c.14-51520G>A | NP_689910.2:n.14-51520G>A |