gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00305562 (AFR)
Genomes Max Group AF
0.00240034 (AFR)
Exomes Max Group AF
0.00356242 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130499511C>T , CM000671.2:g.130499511C>T | GRCh38 |
| NC_000009.11:g.133374898C>T , CM000671.1:g.133374898C>T | GRCh37 |
| NC_000009.10:g.132364719C>T | NCBI36 |
| NG_011542.1:g.59805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1134C>T MANE Select | ENSP00000253004.6:p.Asn378= | |
| ENST00000352480.9:c.1134C>T | ENSP00000253004.6:p.Asn378= | |
| ENST00000372386.6:n.405C>T | ||
| ENST00000372393.7:c.1134C>T | ENSP00000361469.2:p.Asn378= | |
| ENST00000372394.5:c.1134C>T | ENSP00000361471.1:p.Asn378= | |
| NM_000050.4:c.1134C>T | NP_000041.2:p.Asn378= | |
| NM_054012.3:c.1134C>T | NP_446464.1:p.Asn378= | |
| XM_005272200.2:c.1134C>T | XP_005272257.1:p.Asn378= | |
| XM_011518705.1:c.1248C>T | XP_011517007.1:p.Asn416= | |
| XR_930393.1:n.1059+436G>A | ||
| XM_005272200.3:c.1134C>T | XP_005272257.1:p.Asn378= | |
| XM_011518705.2:c.1248C>T | XP_011517007.1:p.Asn416= | |
| XM_017014729.1:c.1230C>T | XP_016870218.1:p.Asn410= | |
| XR_930393.2:n.1101+436G>A | ||
| NM_054012.4:c.1134C>T MANE Select | NP_446464.1:p.Asn378= |