dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2552521 (SAS)
Genomes Max Group AF
0.2552521 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40629878T>C , CM000675.2:g.40629878T>C | GRCh38 |
| NC_000013.10:g.41204015T>C , CM000675.1:g.41204015T>C | GRCh37 |
| NC_000013.9:g.40102015T>C | NCBI36 |
| NG_023244.1:g.41720A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379561.6:c.630+35705A>G MANE Select | ENSP00000368880.4:n.630+35705A>G | |
| ENST00000655267.1:n.333+35705A>G | ||
| ENST00000660760.1:n.397+3269A>G | ||
| ENST00000379561.5:c.630+35705A>G | ENSP00000368880.4:n.630+35705A>G | |
| NM_002015.3:c.630+35705A>G | NP_002006.2:n.630+35705A>G | |
| XR_941536.1:n.1226+15461A>G | ||
| NM_002015.4:c.630+35705A>G MANE Select | NP_002006.2:n.630+35705A>G |