gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000987 (NFE)
Exomes Max Group AF
0.00001049 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323228C>T , CM000677.2:g.73323228C>T | GRCh38 |
| NC_000015.9:g.73615569C>T , CM000677.1:g.73615569C>T | GRCh37 |
| NC_000015.8:g.71402622C>T | NCBI36 |
| NG_009063.1:g.51037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2865G>A MANE Select | ENSP00000261917.3:p.Pro955= | |
| ENST00000261917.3:c.2865G>A | ENSP00000261917.3:p.Pro955= | |
| NM_005477.2:c.2865G>A | NP_005468.1:p.Pro955= | |
| XM_011521148.1:c.1647G>A | XP_011519450.1:p.Pro549= | |
| XM_011521148.2:c.1647G>A | XP_011519450.1:p.Pro549= | |
| NM_005477.3:c.2865G>A MANE Select | NP_005468.1:p.Pro955= |