gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59378277 (NFE)
Genomes Max Group AF
0.59378277 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.27971997G>A , CM000680.2:g.27971997G>A | GRCh38 |
| NC_000018.9:g.25551961G>A , CM000680.1:g.25551961G>A | GRCh37 |
| NC_000018.8:g.23805959G>A | NCBI36 |
| NG_011959.1:g.210485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269141.8:c.2350-8476C>T MANE Select | ENSP00000269141.3:n.2350-8476C>T | |
| ENST00000430882.6:c.2095-8476C>T | ENSP00000412120.2:n.2095-8476C>T | |
| ENST00000675173.1:c.987-8476C>T | ||
| ENST00000675688.1:c.302-8476C>T | ||
| ENST00000675708.1:c.2095-6015C>T | ENSP00000501654.1:n.2095-6015C>T | |
| ENST00000676041.1:n.2081-8476C>T | ||
| ENST00000676445.1:c.2095-8476C>T | ENSP00000502206.1:n.2095-8476C>T | |
| ENST00000269141.7:c.2350-8476C>T | ENSP00000269141.3:n.2350-8476C>T | |
| ENST00000399380.7:c.2257-8476C>T | ENSP00000382312.3:n.2257-8476C>T | |
| NM_001308176.1:c.2257-8476C>T | NP_001295105.1:n.2257-8476C>T | |
| NM_001792.3:c.2350-8476C>T | NP_001783.2:n.2350-8476C>T | |
| NM_001792.4:c.2350-8476C>T | NP_001783.2:n.2350-8476C>T | |
| XM_005258181.2:c.2296-8476C>T | XP_005258238.1:n.2296-8476C>T | |
| XM_011525787.1:c.2296-8476C>T | XP_011524089.1:n.2296-8476C>T | |
| XM_011525788.1:c.2095-8476C>T | XP_011524090.1:n.2095-8476C>T | |
| XM_017025514.2:c.2350-8476C>T | XP_016881003.1:n.2350-8476C>T | |
| NM_001792.5:c.2350-8476C>T MANE Select | NP_001783.2:n.2350-8476C>T | |
| NM_001308176.2:c.2257-8476C>T | NP_001295105.1:n.2257-8476C>T |