gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54513044 (EAS)
Genomes Max Group AF
0.54513044 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76499631C>T , CM000666.2:g.76499631C>T | GRCh38 |
| NC_000004.11:g.77420784C>T , CM000666.1:g.77420784C>T | GRCh37 |
| NC_000004.10:g.77639808C>T | NCBI36 |
| NG_028077.1:g.69532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296043.7:c.169-55978C>T MANE Select | ENSP00000296043.6:n.169-55978C>T | |
| ENST00000296043.6:c.169-55978C>T | ENSP00000296043.6:n.169-55978C>T | |
| ENST00000466541.1:n.76-55978C>T | ||
| ENST00000497440.5:n.110-55978C>T | ||
| NM_020859.3:c.169-55978C>T | NP_065910.3:n.169-55978C>T | |
| XM_005263162.3:c.169-55978C>T | XP_005263219.1:n.169-55978C>T | |
| XM_006714282.2:c.63+5109C>T | XP_006714345.1:n.63+5109C>T | |
| XM_011532158.1:c.169-55975C>T | XP_011530460.1:n.169-55975C>T | |
| XM_011532159.1:c.169-55975C>T | XP_011530461.1:n.169-55975C>T | |
| XM_011532158.3:c.169-55975C>T | XP_011530460.1:n.169-55975C>T | |
| XM_017008488.1:c.63+5109C>T | XP_016863977.1:n.63+5109C>T | |
| XM_017008489.1:c.63+4999C>T | XP_016863978.1:n.63+4999C>T | |
| NM_020859.4:c.169-55978C>T MANE Select | NP_065910.3:n.169-55978C>T |