dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70534435 (AFR)
Genomes Max Group AF
0.70534435 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80526185C>T , CM000670.2:g.80526185C>T | GRCh38 |
| NC_000008.10:g.81438420C>T , CM000670.1:g.81438420C>T | GRCh37 |
| NC_000008.9:g.81600975C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455036.8:c.*6657C>T MANE Select | ENSP00000412036.3:n.*6657C>T | |
| ENST00000426744.5:c.*6657C>T | ENSP00000416134.2:n.*6657C>T | |
| ENST00000430430.5:c.*6657C>T | ENSP00000387462.1:n.*6657C>T | |
| NM_001105539.2:c.*6657C>T | NP_001099009.1:n.*6657C>T | |
| NM_001277145.1:c.*6657C>T | NP_001264074.1:n.*6657C>T | |
| NM_023929.4:c.*6657C>T | NP_076418.3:n.*6657C>T | |
| XM_005251287.3:c.*6657C>T | XP_005251344.1:n.*6657C>T | |
| NM_001105539.3:c.*6657C>T MANE Select | NP_001099009.1:n.*6657C>T | |
| NM_001277145.2:c.*6657C>T | NP_001264074.1:n.*6657C>T | |
| NM_023929.5:c.*6657C>T | NP_076418.3:n.*6657C>T |