gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010969 (SAS)
Exomes Max Group AF
0.00010711 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121699A>T , CM000669.2:g.96121699A>T | GRCh38 |
| NC_000007.13:g.95751011A>T , CM000669.1:g.95751011A>T | GRCh37 |
| NC_000007.12:g.95588947A>T | NCBI36 |
| NG_012247.1:g.205449T>A | |
| NG_012247.2:g.205449T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1797T>A MANE Select | ENSP00000265631.6:p.Thr599= | |
| ENST00000265631.9:c.1797T>A | ENSP00000265631.5:p.Thr599= | |
| ENST00000416240.6:c.1800T>A | ENSP00000400101.2:p.Thr600= | |
| ENST00000494085.1:n.300T>A | ||
| NM_001160210.1:c.1800T>A | NP_001153682.1:p.Thr600= | |
| NM_014251.2:c.1797T>A | NP_055066.1:p.Thr599= | |
| NR_027662.1:n.1872T>A | ||
| XM_006715831.2:c.1830T>A | XP_006715894.1:p.Thr610= | |
| XM_011515728.1:c.945T>A | XP_011514030.1:p.Thr315= | |
| XM_006715831.4:c.1830T>A | XP_006715894.1:p.Thr610= | |
| XM_017011663.1:c.1788T>A | XP_016867152.1:p.Thr596= | |
| XM_017011664.2:c.945T>A | XP_016867153.1:p.Thr315= | |
| XM_017011665.1:c.945T>A | XP_016867154.1:p.Thr315= | |
| XR_001744525.2:n.2043T>A | ||
| XR_002956405.1:n.2601T>A | ||
| NM_014251.3:c.1797T>A MANE Select | NP_055066.1:p.Thr599= | |
| NR_027662.2:n.1823T>A | ||
| NM_001160210.2:c.1800T>A | NP_001153682.1:p.Thr600= |