gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69913337 (NFE)
Genomes Max Group AF
0.69913337 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.123162763C>T , CM000666.2:g.123162763C>T | GRCh38 |
| NC_000004.11:g.124083918C>T , CM000666.1:g.124083918C>T | GRCh37 |
| NC_000004.10:g.124303368C>T | NCBI36 |
| NG_051570.1:g.244694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274008.5:c.2340+72058C>T MANE Select | ENSP00000274008.3:n.2340+72058C>T | |
| ENST00000675612.1:c.2409+72058C>T | ENSP00000502453.1:n.2409+72058C>T | |
| ENST00000274008.4:c.2340+72058C>T | ENSP00000274008.3:n.2340+72058C>T | |
| NM_145207.2:c.2340+72058C>T | NP_660208.2:n.2340+72058C>T | |
| XM_005262783.3:c.2337+72058C>T | XP_005262840.1:n.2337+72058C>T | |
| XM_011531678.1:c.2409+72058C>T | XP_011529980.1:n.2409+72058C>T | |
| NM_001345856.1:c.2337+72058C>T | NP_001332785.1:n.2337+72058C>T | |
| XM_011531678.2:c.2409+72058C>T | XP_011529980.1:n.2409+72058C>T | |
| XM_017007825.1:c.2412+72058C>T | XP_016863314.1:n.2412+72058C>T | |
| XM_017007826.1:c.2412+72058C>T | XP_016863315.1:n.2412+72058C>T | |
| XM_017007828.1:c.2118+72058C>T | XP_016863317.1:n.2118+72058C>T | |
| XM_017007829.1:c.1956+72058C>T | XP_016863318.1:n.1956+72058C>T | |
| XR_001741151.1:n.2498+72058C>T | ||
| NM_145207.3:c.2340+72058C>T MANE Select | NP_660208.2:n.2340+72058C>T | |
| NM_001345856.2:c.2337+72058C>T | NP_001332785.1:n.2337+72058C>T |