gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36776263 (MID)
Genomes Max Group AF
0.3295929 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6223061C>A , CM000668.2:g.6223061C>A | GRCh38 |
| NC_000006.11:g.6223294C>A , CM000668.1:g.6223294C>A | GRCh37 |
| NC_000006.10:g.6168293C>A | NCBI36 |
| NG_008107.1:g.102631G>T , LRG_549:g.102631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.974-890G>T MANE Select | ENSP00000264870.3:n.974-890G>T | |
| ENST00000264870.7:c.974-890G>T | ENSP00000264870.3:n.974-890G>T | |
| ENST00000445223.1:c.124-890G>T | ||
| NM_000129.3:c.974-890G>T , LRG_549t1:c.974-890G>T | NP_000120.2:n.974-890G>T | |
| XM_006715010.2:c.974-890G>T | XP_006715073.1:n.974-890G>T | |
| XM_011514342.1:c.1136-890G>T | XP_011512644.1:n.1136-890G>T | |
| NM_000129.4:c.974-890G>T MANE Select | NP_000120.2:n.974-890G>T |