gnomAD v4:
Joint Max Group AF
0.00007259 (EAS)
Exomes Max Group AF
0.00008198 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121695C>A , CM000669.2:g.96121695C>A | GRCh38 |
| NC_000007.13:g.95751007C>A , CM000669.1:g.95751007C>A | GRCh37 |
| NC_000007.12:g.95588943C>A | NCBI36 |
| NG_012247.1:g.205453G>T | |
| NG_012247.2:g.205453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1801G>T MANE Select | ENSP00000265631.6:p.Glu601Ter | |
| ENST00000265631.9:c.1801G>T | ENSP00000265631.5:p.Glu601Ter | |
| ENST00000416240.6:c.1804G>T | ENSP00000400101.2:p.Glu602Ter | |
| ENST00000494085.1:n.304G>T | ||
| NM_001160210.1:c.1804G>T | NP_001153682.1:p.Glu602Ter | |
| NM_014251.2:c.1801G>T | NP_055066.1:p.Glu601Ter | |
| NR_027662.1:n.1876G>T | ||
| XM_006715831.2:c.1834G>T | XP_006715894.1:p.Glu612Ter | |
| XM_011515728.1:c.949G>T | XP_011514030.1:p.Glu317Ter | |
| XM_006715831.4:c.1834G>T | XP_006715894.1:p.Glu612Ter | |
| XM_017011663.1:c.1792G>T | XP_016867152.1:p.Glu598Ter | |
| XM_017011664.2:c.949G>T | XP_016867153.1:p.Glu317Ter | |
| XM_017011665.1:c.949G>T | XP_016867154.1:p.Glu317Ter | |
| XR_001744525.2:n.2047G>T | ||
| XR_002956405.1:n.2605G>T | ||
| NM_014251.3:c.1801G>T MANE Select | NP_055066.1:p.Glu601Ter | |
| NR_027662.2:n.1827G>T | ||
| NM_001160210.2:c.1804G>T | NP_001153682.1:p.Glu602Ter |