gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693589C>T , CM000671.2:g.126693589C>T | GRCh38 |
| NC_000009.11:g.129455868C>T , CM000671.1:g.129455868C>T | GRCh37 |
| NC_000009.10:g.128495689C>T | NCBI36 |
| NG_017039.1:g.84147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.807C>T | ENSP00000347684.5:p.Asn269= | |
| ENST00000373474.9:c.807C>T MANE Select | ENSP00000362573.3:p.Asn269= | |
| ENST00000526117.6:c.807C>T | ENSP00000436930.1:p.Asn269= | |
| ENST00000355497.9:c.807C>T | ENSP00000347684.5:p.Asn269= | |
| ENST00000373474.8:c.807C>T | ENSP00000362573.3:p.Asn269= | |
| ENST00000526117.5:c.807C>T | ENSP00000436930.1:p.Asn269= | |
| ENST00000561065.1:c.738C>T | ENSP00000453580.1:p.Asn246= | |
| NM_001174146.1:c.807C>T | NP_001167617.1:p.Asn269= | |
| NM_001174147.1:c.807C>T | NP_001167618.1:p.Asn269= | |
| NM_002316.3:c.807C>T | NP_002307.2:p.Asn269= | |
| NM_001174146.2:c.807C>T | NP_001167617.1:p.Asn269= | |
| NM_001174147.2:c.807C>T MANE Select | NP_001167618.1:p.Asn269= | |
| NM_002316.4:c.807C>T | NP_002307.2:p.Asn269= |