gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948131T>C , CM000678.2:g.13948131T>C | GRCh38 |
| NC_000016.9:g.14041988T>C , CM000678.1:g.14041988T>C | GRCh37 |
| NC_000016.8:g.13949489T>C | NCBI36 |
| NG_011442.1:g.32975T>C , LRG_463:g.32975T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2673T>C | ENSP00000507912.1:p.Asn891= | |
| ENST00000683962.1:c.*2229T>C | ENSP00000506854.1:n.*2229T>C | |
| ENST00000311895.8:c.2535T>C MANE Select | ENSP00000310520.7:p.Asn845= | |
| ENST00000311895.7:c.2535T>C | ENSP00000310520.7:p.Asn845= | |
| ENST00000389138.7:n.1812T>C | ||
| NM_005236.2:c.2535T>C , LRG_463t1:c.2535T>C | NP_005227.1:p.Asn845= | |
| XM_011522424.1:c.2673T>C | XP_011520726.1:p.Asn891= | |
| XM_011522425.1:c.1992T>C | XP_011520727.1:p.Asn664= | |
| XM_011522426.1:c.1746T>C | XP_011520728.1:p.Asn582= | |
| XM_011522427.1:c.1185T>C | XP_011520729.1:p.Asn395= | |
| XR_932805.1:n.2694T>C | ||
| XM_011522424.3:c.2673T>C | XP_011520726.1:p.Asn891= | |
| XM_017023043.2:c.1746T>C | XP_016878532.1:p.Asn582= | |
| NM_005236.3:c.2535T>C MANE Select | NP_005227.1:p.Asn845= |