gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50190001A>T , CM000679.2:g.50190001A>T | GRCh38 |
| NC_000017.10:g.48267362A>T , CM000679.1:g.48267362A>T | GRCh37 |
| NC_000017.9:g.45622361A>T | NCBI36 |
| NG_007400.1:g.16639T>A , LRG_1:g.16639T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2559T>A MANE Select | ENSP00000225964.6:p.Ile853= | |
| ENST00000225964.9:c.2559T>A | ENSP00000225964.5:p.Ile853= | |
| NM_000088.3:c.2559T>A , LRG_1t1:c.2559T>A | NP_000079.2:p.Ile853= | |
| XM_005257058.3:c.2559T>A | XP_005257115.2:p.Ile853= | |
| XM_005257059.3:c.1641T>A | XP_005257116.2:p.Ile547= | |
| XM_011524341.1:c.2361T>A | XP_011522643.1:p.Ile787= | |
| XM_005257058.4:c.2559T>A | XP_005257115.2:p.Ile853= | |
| XM_005257059.4:c.1641T>A | XP_005257116.2:p.Ile547= | |
| NM_000088.4:c.2559T>A MANE Select | NP_000079.2:p.Ile853= |