ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001455 (NFE)
Exomes Max Group AF
0.00001461 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129456413G>A , CM000668.2:g.129456413G>A | GRCh38 |
| NC_000006.11:g.129777558G>A , CM000668.1:g.129777558G>A | GRCh37 |
| NC_000006.10:g.129819251G>A | NCBI36 |
| NG_008678.1:g.578273G>A , LRG_409:g.578273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.6786G>A | ENSP00000481744.2:p.Ser2262= | |
| ENST00000618192.5:c.7050G>A | ENSP00000480802.2:p.Ser2350= | |
| ENST00000684985.1:n.417G>A | ||
| ENST00000688150.1:n.125G>A | ||
| ENST00000421865.3:c.6786G>A MANE Select | ENSP00000400365.2:p.Ser2262= | |
| ENST00000421865.2:c.6786G>A | ENSP00000400365.2:p.Ser2262= | |
| ENST00000617695.4:c.6786G>A | ENSP00000481744.1:p.Ser2262= | |
| ENST00000618192.4:c.6783G>A | ENSP00000480802.1:p.Ser2261= | |
| NM_000426.3:c.6786G>A , LRG_409t1:c.6786G>A | NP_000417.2:p.Ser2262= | |
| NM_001079823.1:c.6786G>A | NP_001073291.1:p.Ser2262= | |
| XM_005266981.2:c.7050G>A | XP_005267038.1:p.Ser2350= | |
| XM_005266982.2:c.7050G>A | XP_005267039.1:p.Ser2350= | |
| XM_011535820.1:c.7044G>A | XP_011534122.1:p.Ser2348= | |
| XM_005266981.3:c.7050G>A | XP_005267038.1:p.Ser2350= | |
| XM_005266982.3:c.7050G>A | XP_005267039.1:p.Ser2350= | |
| XM_011535820.2:c.7044G>A | XP_011534122.1:p.Ser2348= | |
| XM_017010851.2:c.7056G>A | XP_016866340.1:p.Ser2352= | |
| XM_017010852.1:c.5181G>A | XP_016866341.1:p.Ser1727= | |
| NM_000426.4:c.6786G>A MANE Select | NP_000417.3:p.Ser2262= | |
| NM_001079823.2:c.6786G>A | NP_001073291.2:p.Ser2262= |