gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000738 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12663371G>A , CM000681.2:g.12663371G>A | GRCh38 |
| NC_000019.9:g.12774185G>A , CM000681.1:g.12774185G>A | GRCh37 |
| NC_000019.8:g.12635185G>A | NCBI36 |
| NG_008318.1:g.8407C>T | |
| NG_015814.1:g.1568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.855C>T MANE Select | ENSP00000395473.2:p.Pro285= | |
| ENST00000221363.8:c.855C>T | ENSP00000221363.4:p.Pro285= | |
| ENST00000456935.6:c.855C>T | ENSP00000395473.2:p.Pro285= | |
| ENST00000462144.1:n.48C>T | ||
| ENST00000466794.5:n.837C>T | ||
| NM_000528.3:c.855C>T | NP_000519.2:p.Pro285= | |
| NM_001173498.1:c.855C>T | NP_001166969.1:p.Pro285= | |
| XM_005259913.1:c.855C>T | XP_005259970.1:p.Pro285= | |
| XM_005259913.2:c.855C>T | XP_005259970.1:p.Pro285= | |
| XM_024451518.1:c.-164C>T | XP_024307286.1:n.-164C>T | |
| NM_000528.4:c.855C>T MANE Select | NP_000519.2:p.Pro285= | |
| NM_001173498.2:c.855C>T | NP_001166969.1:p.Pro285= |