ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001744 (AFR)
Exomes Max Group AF
0.00003982 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27776813C>T , CM000670.2:g.27776813C>T | GRCh38 |
| NC_000008.10:g.27634330C>T , CM000670.1:g.27634330C>T | GRCh37 |
| NC_000008.9:g.27690249C>T | NCBI36 |
| NG_008117.1:g.7273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.505C>T MANE Select | ENSP00000306999.8:p.Arg169Ter | |
| ENST00000305188.12:c.505C>T | ENSP00000306999.8:p.Arg169Ter | |
| ENST00000522378.5:c.505C>T | ENSP00000428928.1:p.Arg169Ter | |
| ENST00000523566.5:c.505C>T | ENSP00000428435.1:p.Arg169Ter | |
| ENST00000523910.1:n.304C>T | ||
| ENST00000524293.1:n.523C>T | ||
| NM_001017420.2:c.505C>T | NP_001017420.1:p.Arg169Ter | |
| XM_011544421.1:c.505C>T | XP_011542723.1:p.Arg169Ter | |
| XM_011544422.1:c.505C>T | XP_011542724.1:p.Arg169Ter | |
| XR_949378.1:n.589C>T | ||
| XR_949379.1:n.589C>T | ||
| XM_011544421.2:c.505C>T | XP_011542723.1:p.Arg169Ter | |
| XM_011544422.2:c.505C>T | XP_011542724.1:p.Arg169Ter | |
| XR_949378.3:n.589C>T | ||
| NM_001017420.3:c.505C>T MANE Select | NP_001017420.1:p.Arg169Ter |