gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9497464 (EAS)
Genomes Max Group AF
0.9497464 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33190412A>C , CM000668.2:g.33190412A>C | GRCh38 |
| NC_000006.11:g.33158189A>C , CM000668.1:g.33158189A>C | GRCh37 |
| NC_000006.10:g.33266167A>C | NCBI36 |
| NG_011589.1:g.7057T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.83-943T>G MANE Select | ENSP00000339915.2:n.83-943T>G | |
| ENST00000341947.6:c.83-943T>G | ENSP00000339915.2:n.83-943T>G | |
| ENST00000361917.5:c.83-943T>G | ENSP00000355123.1:n.83-943T>G | |
| ENST00000374708.8:c.83-943T>G | ENSP00000363840.4:n.83-943T>G | |
| ENST00000395194.1:c.83-943T>G | ENSP00000378620.1:n.83-943T>G | |
| ENST00000457788.5:c.83-943T>G | ENSP00000405520.1:n.83-943T>G | |
| NM_001163771.1:c.83-943T>G | NP_001157243.1:n.83-943T>G | |
| NM_080679.2:c.83-943T>G | NP_542410.2:n.83-943T>G | |
| NM_080680.2:c.83-943T>G | NP_542411.2:n.83-943T>G | |
| NM_080681.2:c.83-943T>G | NP_542412.2:n.83-943T>G | |
| XM_011514298.1:c.-764-943T>G | XP_011512600.1:n.-764-943T>G | |
| XM_017010250.1:c.83-943T>G | XP_016865739.1:n.83-943T>G | |
| NM_001163771.2:c.83-943T>G | NP_001157243.1:n.83-943T>G | |
| NM_080680.3:c.83-943T>G MANE Select | NP_542411.2:n.83-943T>G | |
| NM_080681.3:c.83-943T>G | NP_542412.2:n.83-943T>G | |
| NM_080679.3:c.83-943T>G | NP_542410.2:n.83-943T>G |