gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326695G>A , CM000677.2:g.89326695G>A | GRCh38 |
| NC_000015.9:g.89869926G>A , CM000677.1:g.89869926G>A | GRCh37 |
| NC_000015.8:g.87670930G>A | NCBI36 |
| NG_008218.1:g.13101C>T | |
| NG_008218.2:g.13101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1629C>T | ENSP00000516154.1:p.Val543= | |
| ENST00000268124.11:c.1629C>T MANE Select | ENSP00000268124.5:p.Val543= | |
| ENST00000530292.3:c.1230C>T | ENSP00000432885.2:p.Val410= | |
| ENST00000635986.2:c.1629C>T | ENSP00000490653.2:p.Val543= | |
| ENST00000636774.1:c.*196C>T | ENSP00000489799.1:n.*196C>T | |
| ENST00000637238.1:c.366C>T | ENSP00000490756.1:p.Val122= | |
| ENST00000637264.1:c.701C>T | ||
| ENST00000666746.1:c.1206C>T | ||
| ENST00000672071.1:n.1827C>T | ||
| ENST00000672923.2:n.1732C>T | ||
| ENST00000268124.9:c.1629C>T | ENSP00000268124.5:p.Val543= | |
| ENST00000442287.6:c.1629C>T | ENSP00000399851.2:p.Val543= | |
| ENST00000526314.2:c.11C>T | ||
| ENST00000631044.2:c.*1012C>T | ENSP00000486730.1:n.*1012C>T | |
| NM_001126131.1:c.1629C>T | NP_001119603.1:p.Val543= | |
| NM_002693.2:c.1629C>T | NP_002684.1:p.Val543= | |
| NM_001126131.2:c.1629C>T | NP_001119603.1:p.Val543= | |
| NM_002693.3:c.1629C>T MANE Select | NP_002684.1:p.Val543= |