gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116778894G>A , CM000669.2:g.116778894G>A | GRCh38 |
| NC_000007.13:g.116418948G>A , CM000669.1:g.116418948G>A | GRCh37 |
| NC_000007.12:g.116206184G>A | NCBI36 |
| NG_008996.1:g.111490G>A , LRG_662:g.111490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*1064G>A | ENSP00000410980.2:n.*1064G>A | |
| ENST00000318493.11:c.3513G>A | ENSP00000317272.6:p.Pro1171= | |
| ENST00000397752.8:c.3459G>A MANE Select | ENSP00000380860.3:p.Pro1153= | |
| ENST00000318493.10:c.3513G>A | ENSP00000317272.6:p.Pro1171= | |
| ENST00000397752.7:c.3459G>A | ENSP00000380860.3:p.Pro1153= | |
| NM_000245.2:c.3459G>A | NP_000236.2:p.Pro1153= | |
| NM_001127500.1:c.3513G>A , LRG_662t1:c.3513G>A | NP_001120972.1:p.Pro1171= | |
| XM_006715990.2:c.2169G>A | XP_006716053.1:p.Pro723= | |
| XM_006715991.2:c.2169G>A | XP_006716054.1:p.Pro723= | |
| XM_011516223.1:c.3516G>A | XP_011514525.1:p.Pro1172= | |
| NM_000245.3:c.3459G>A | NP_000236.2:p.Pro1153= | |
| NM_001127500.2:c.3513G>A | NP_001120972.1:p.Pro1171= | |
| NM_001324402.1:c.2169G>A | NP_001311331.1:p.Pro723= | |
| XR_001744772.1:n.3590G>A | ||
| NM_001127500.3:c.3513G>A | NP_001120972.1:p.Pro1171= | |
| NM_000245.4:c.3459G>A MANE Select | NP_000236.2:p.Pro1153= | |
| NM_001324402.2:c.2169G>A | NP_001311331.1:p.Pro723= |