gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61597987 (EAS)
Genomes Max Group AF
0.61679534 (EAS)
Exomes Max Group AF
0.61226264 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130371771C>T , CM000674.2:g.130371771C>T | GRCh38 |
| NC_000012.11:g.130856316C>T , CM000674.1:g.130856316C>T | GRCh37 |
| NC_000012.10:g.129422269C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245255.7:c.*173C>T MANE Select | ENSP00000245255.3:n.*173C>T | |
| NM_004764.4:c.*173C>T | NP_004755.2:n.*173C>T | |
| XM_006719698.2:c.*173C>T | XP_006719761.1:n.*173C>T | |
| XM_011539002.1:c.*173C>T | XP_011537304.1:n.*173C>T | |
| XM_011539003.1:c.*173C>T | XP_011537305.1:n.*173C>T | |
| XM_011539004.1:c.*173C>T | XP_011537306.1:n.*173C>T | |
| XM_011539005.1:c.*173C>T | XP_011537307.1:n.*173C>T | |
| XM_011539006.1:c.*173C>T | XP_011537308.1:n.*173C>T | |
| XR_944838.1:n.2648+448C>T | ||
| XR_944839.1:n.2648+448C>T | ||
| XM_011539002.3:c.*173C>T | XP_011537304.1:n.*173C>T | |
| XM_011539003.3:c.*173C>T | XP_011537305.1:n.*173C>T | |
| XM_011539004.3:c.*173C>T | XP_011537306.1:n.*173C>T | |
| XM_011539006.3:c.*173C>T | XP_011537308.1:n.*173C>T | |
| XM_017020229.1:c.2469+448C>T | XP_016875718.1:n.2469+448C>T | |
| XM_024449277.1:c.*173C>T | XP_024305045.1:n.*173C>T | |
| NM_004764.5:c.*173C>T MANE Select | NP_004755.2:n.*173C>T |