gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002655 (NFE)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00002734 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2656237G>T , CM000680.2:g.2656237G>T | GRCh38 |
| NC_000018.9:g.2656236G>T , CM000680.1:g.2656236G>T | GRCh37 |
| NC_000018.8:g.2646236G>T | NCBI36 |
| NG_031972.1:g.5351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.319G>T | ||
| ENST00000688342.1:c.162G>T | ENSP00000508422.1:p.Ala54= | |
| ENST00000320876.11:c.162G>T MANE Select | ENSP00000326603.7:p.Ala54= | |
| ENST00000320876.10:c.162G>T | ENSP00000326603.6:p.Ala54= | |
| NM_015295.2:c.162G>T | NP_056110.2:p.Ala54= | |
| XM_011525642.1:c.162G>T | XP_011523944.1:p.Ala54= | |
| XM_011525643.1:c.162G>T | XP_011523945.1:p.Ala54= | |
| XM_011525644.1:c.-147G>T | XP_011523946.1:n.-147G>T | |
| XM_011525646.1:c.162G>T | XP_011523948.1:p.Ala54= | |
| XM_011525647.1:c.162G>T | XP_011523949.1:p.Ala54= | |
| XR_430039.1:n.351G>T | ||
| XR_935054.1:n.351G>T | ||
| XR_935055.1:n.351G>T | ||
| XM_011525643.2:c.162G>T | XP_011523945.1:p.Ala54= | |
| XM_017025684.1:c.-581G>T | XP_016881173.1:n.-581G>T | |
| XR_001753172.1:n.351G>T | ||
| XR_001753173.1:n.351G>T | ||
| XR_001753174.1:n.351G>T | ||
| XR_001753175.1:n.351G>T | ||
| XR_001753176.1:n.351G>T | ||
| XR_001753177.1:n.351G>T | ||
| XR_001753178.1:n.351G>T | ||
| XR_001753179.1:n.351G>T | ||
| XR_935055.2:n.351G>T | ||
| NM_015295.3:c.162G>T MANE Select | NP_056110.2:p.Ala54= |