gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33684798 (EAS)
Genomes Max Group AF
0.33684798 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19392330G>A , CM000663.2:g.19392330G>A | GRCh38 |
| NC_000001.10:g.19718824G>A , CM000663.1:g.19718824G>A | GRCh37 |
| NC_000001.9:g.19591411G>A | NCBI36 |
| NG_029551.1:g.98243C>T | |
| NG_029551.2:g.98243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375142.6:c.94-6704C>T | ENSP00000364284.1:n.94-6704C>T | |
| ENST00000264202.8:c.94-6704C>T MANE Select | ENSP00000264202.7:n.94-6704C>T | |
| ENST00000375144.6:c.94-6704C>T | ENSP00000364286.2:n.94-6704C>T | |
| ENST00000482808.2:n.193-6704C>T | ||
| ENST00000674228.1:c.78-13677C>T | ||
| ENST00000674390.1:n.793-6704C>T | ||
| ENST00000674432.1:c.94-6704C>T | ENSP00000501528.1:n.94-6704C>T | |
| ENST00000674449.1:c.*4831-6704C>T | ENSP00000501388.1:n.*4831-6704C>T | |
| ENST00000264202.7:c.94-6704C>T | ENSP00000264202.7:n.94-6704C>T | |
| ENST00000264203.7:c.172-6704C>T | ENSP00000264203.3:n.172-6704C>T | |
| ENST00000375142.5:c.94-6704C>T | ENSP00000364284.1:n.94-6704C>T | |
| ENST00000375144.5:c.58-6704C>T | ENSP00000364286.1:n.58-6704C>T | |
| ENST00000433834.5:c.181-6704C>T | ENSP00000401010.1:n.181-6704C>T | |
| ENST00000459967.6:n.105-6704C>T | ||
| ENST00000482808.1:n.144-6704C>T | ||
| ENST00000489607.5:n.211-6704C>T | ||
| NM_001206540.2:c.94-6704C>T | NP_001193469.1:n.94-6704C>T | |
| NM_001206541.2:c.172-6704C>T | NP_001193470.1:n.172-6704C>T | |
| NM_001282162.1:c.181-6704C>T | NP_001269091.1:n.181-6704C>T | |
| NM_001313932.1:c.94-6704C>T | NP_001300861.1:n.94-6704C>T | |
| NM_004930.4:c.94-6704C>T | NP_004921.1:n.94-6704C>T | |
| XM_006710938.2:c.175-6704C>T | XP_006711001.1:n.175-6704C>T | |
| XM_011542228.1:c.181-6704C>T | XP_011540530.1:n.181-6704C>T | |
| XM_011542229.1:c.-168-6704C>T | XP_011540531.1:n.-168-6704C>T | |
| XM_011542230.1:c.-168-6704C>T | XP_011540532.1:n.-168-6704C>T | |
| XM_006710938.4:c.175-6704C>T | XP_006711001.1:n.175-6704C>T | |
| XM_011542228.3:c.181-6704C>T | XP_011540530.1:n.181-6704C>T | |
| XM_011542229.3:c.-168-6704C>T | XP_011540531.1:n.-168-6704C>T | |
| XM_011542230.3:c.-168-6704C>T | XP_011540532.1:n.-168-6704C>T | |
| XM_017002428.2:c.58-6704C>T | XP_016857917.1:n.58-6704C>T | |
| XM_017002429.2:c.181-6704C>T | XP_016857918.1:n.181-6704C>T | |
| XM_017002430.2:c.181-6704C>T | XP_016857919.1:n.181-6704C>T | |
| XM_024450096.1:c.-168-6704C>T | XP_024305864.1:n.-168-6704C>T | |
| XM_024450097.1:c.-168-6704C>T | XP_024305865.1:n.-168-6704C>T | |
| NM_004930.5:c.94-6704C>T MANE Select | NP_004921.1:n.94-6704C>T | |
| NM_001206540.3:c.94-6704C>T | NP_001193469.1:n.94-6704C>T | |
| NM_001206541.3:c.172-6704C>T | NP_001193470.1:n.172-6704C>T | |
| NM_001282162.2:c.181-6704C>T | NP_001269091.1:n.181-6704C>T | |
| NM_001313932.2:c.94-6704C>T | NP_001300861.1:n.94-6704C>T |