gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56472579 (MID)
Genomes Max Group AF
0.55436999 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.198065082C>T , CM000664.2:g.198065082C>T | GRCh38 |
| NC_000002.11:g.198929806C>T , CM000664.1:g.198929806C>T | GRCh37 |
| NC_000002.10:g.198638051C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428675.6:c.241-18676C>T MANE Select | ENSP00000402861.1:n.241-18676C>T | |
| ENST00000428675.5:c.241-18676C>T | ENSP00000402861.1:n.241-18676C>T | |
| ENST00000435320.1:c.*13-18676C>T | ENSP00000410488.1:n.*13-18676C>T | |
| ENST00000487695.6:c.19-18676C>T | ENSP00000457588.1:n.19-18676C>T | |
| NM_006226.3:c.241-18676C>T | NP_006217.3:n.241-18676C>T | |
| XM_005246643.2:c.19-18676C>T | XP_005246700.1:n.19-18676C>T | |
| XM_011511351.1:c.4-18676C>T | XP_011509653.1:n.4-18676C>T | |
| XM_005246643.4:c.19-18676C>T | XP_005246700.1:n.19-18676C>T | |
| XM_011511351.2:c.4-18676C>T | XP_011509653.1:n.4-18676C>T | |
| XM_017004339.2:c.4-18676C>T | XP_016859828.1:n.4-18676C>T | |
| XM_017004340.2:c.-54-18676C>T | XP_016859829.1:n.-54-18676C>T | |
| NM_006226.4:c.241-18676C>T MANE Select | NP_006217.3:n.241-18676C>T |