gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32583004 (AMR)
Genomes Max Group AF
0.25290549 (AMR)
Exomes Max Group AF
0.35499142 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33185088G>A , CM000668.2:g.33185088G>A | GRCh38 |
| NC_000006.11:g.33152865G>A , CM000668.1:g.33152865G>A | GRCh37 |
| NC_000006.10:g.33260843G>A | NCBI36 |
| NG_011589.1:g.12381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.694-34C>T | ||
| ENST00000341947.7:c.877-34C>T MANE Select | ENSP00000339915.2:n.877-34C>T | |
| ENST00000341947.6:c.877-34C>T | ENSP00000339915.2:n.877-34C>T | |
| ENST00000361917.5:c.798+1539C>T | ENSP00000355123.1:n.798+1539C>T | |
| ENST00000374708.8:c.799-34C>T | ENSP00000363840.4:n.799-34C>T | |
| ENST00000457788.5:c.877-34C>T | ENSP00000405520.1:n.877-34C>T | |
| NM_080679.2:c.798+1539C>T | NP_542410.2:n.798+1539C>T | |
| NM_080680.2:c.877-34C>T | NP_542411.2:n.877-34C>T | |
| NM_080681.2:c.799-34C>T | NP_542412.2:n.799-34C>T | |
| XM_011514298.1:c.31-34C>T | XP_011512600.1:n.31-34C>T | |
| XM_011514299.1:c.163-34C>T | XP_011512601.1:n.163-34C>T | |
| XM_011514300.1:c.163-34C>T | XP_011512602.1:n.163-34C>T | |
| XM_011514301.1:c.162+196C>T | XP_011512603.1:n.162+196C>T | |
| XM_011514299.2:c.163-34C>T | XP_011512601.1:n.163-34C>T | |
| XM_011514300.2:c.163-34C>T | XP_011512602.1:n.163-34C>T | |
| XM_017010250.1:c.877-34C>T | XP_016865739.1:n.877-34C>T | |
| NM_080680.3:c.877-34C>T MANE Select | NP_542411.2:n.877-34C>T | |
| NM_080681.3:c.799-34C>T | NP_542412.2:n.799-34C>T | |
| NM_080679.3:c.798+1539C>T | NP_542410.2:n.798+1539C>T |