gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58001247 (AFR)
Genomes Max Group AF
0.58001247 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14810903T>C , CM000686.2:g.14810903T>C | GRCh38 |
| NC_000024.9:g.16922783T>C , CM000686.1:g.16922783T>C | GRCh37 |
| NC_000024.8:g.15432177T>C | NCBI36 |
| NG_028212.1:g.293296T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684976.1:c.686-13285T>C MANE Select | ENSP00000510011.1:n.686-13285T>C | |
| ENST00000643089.1:c.686-13285T>C | ENSP00000496594.1:n.686-13285T>C | |
| ENST00000339174.9:c.626-13285T>C | ENSP00000342535.5:n.626-13285T>C | |
| ENST00000355905.6:c.626-13285T>C | ENSP00000348169.2:n.626-13285T>C | |
| ENST00000382868.5:c.797-13285T>C | ENSP00000372320.1:n.797-13285T>C | |
| ENST00000382872.5:c.122-13285T>C | ENSP00000372325.1:n.122-13285T>C | |
| ENST00000476359.1:n.1171-13285T>C | ||
| NM_001206850.1:c.122-13285T>C | NP_001193779.1:n.122-13285T>C | |
| NM_014893.4:c.626-13285T>C | NP_055708.3:n.626-13285T>C | |
| NR_028319.1:n.1100-13285T>C | ||
| NR_046355.1:n.865-13285T>C | ||
| XM_006724874.1:c.686-13285T>C | XP_006724937.1:n.686-13285T>C | |
| XM_011531424.1:c.686-13285T>C | XP_011529726.1:n.686-13285T>C | |
| XM_011531425.1:c.686-13285T>C | XP_011529727.1:n.686-13285T>C | |
| XM_011531426.1:c.686-13285T>C | XP_011529728.1:n.686-13285T>C | |
| XM_011531427.1:c.686-13285T>C | XP_011529729.1:n.686-13285T>C | |
| XM_011531428.1:c.686-13285T>C | XP_011529730.1:n.686-13285T>C | |
| XM_011531429.1:c.686-13285T>C | XP_011529731.1:n.686-13285T>C | |
| XM_011531430.1:c.686-13285T>C | XP_011529732.1:n.686-13285T>C | |
| NM_001365584.1:c.686-13285T>C | NP_001352513.1:n.686-13285T>C | |
| NM_001365586.1:c.686-13285T>C | NP_001352515.1:n.686-13285T>C | |
| NM_001365588.1:c.686-13285T>C MANE Select | NP_001352517.1:n.686-13285T>C | |
| NM_001365590.1:c.626-13285T>C | NP_001352519.1:n.626-13285T>C | |
| NM_001365591.1:c.626-13285T>C | NP_001352520.1:n.626-13285T>C | |
| NM_001365592.1:c.626-13285T>C | NP_001352521.1:n.626-13285T>C | |
| NM_001365593.1:c.626-13285T>C | NP_001352522.1:n.626-13285T>C | |
| XM_006724874.2:c.686-13285T>C | XP_006724937.1:n.686-13285T>C | |
| XM_011531427.2:c.686-13285T>C | XP_011529729.1:n.686-13285T>C | |
| XM_011531429.2:c.686-13285T>C | XP_011529731.1:n.686-13285T>C | |
| XM_011531430.2:c.686-13285T>C | XP_011529732.1:n.686-13285T>C | |
| XM_017030036.1:c.626-13285T>C | XP_016885525.1:n.626-13285T>C | |
| XM_017030039.1:c.251-13285T>C | XP_016885528.1:n.251-13285T>C | |
| XM_017030040.1:c.122-13285T>C | XP_016885529.1:n.122-13285T>C | |
| XM_024452490.1:c.686-13285T>C | XP_024308258.1:n.686-13285T>C | |
| NM_001206850.2:c.122-13285T>C | NP_001193779.1:n.122-13285T>C | |
| NM_014893.5:c.626-13285T>C | NP_055708.3:n.626-13285T>C | |
| NR_046355.2:n.865-13285T>C | ||
| NM_001394830.1:c.686-13285T>C | NP_001381759.1:n.686-13285T>C | |
| NM_001394831.1:c.626-13285T>C | NP_001381760.1:n.626-13285T>C |