gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.211481304G>A , CM000663.2:g.211481304G>A | GRCh38 |
| NC_000001.10:g.211654646G>A , CM000663.1:g.211654646G>A | GRCh37 |
| NC_000001.9:g.209721269G>A | NCBI36 |
| NG_013042.1:g.16614C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367002.5:c.112C>T | ENSP00000355969.4:p.Arg38Ter | |
| ENST00000680073.1:c.112C>T MANE Select | ENSP00000505312.1:p.Arg38Ter | |
| ENST00000367002.4:c.112C>T | ENSP00000355969.4:p.Arg38Ter | |
| ENST00000484910.1:n.265-1977C>T | ||
| NM_001164688.1:c.112C>T | NP_001158160.1:p.Arg38Ter | |
| NM_183059.2:c.112C>T | NP_898882.1:p.Arg38Ter | |
| XM_011509479.1:c.112C>T | XP_011507781.1:p.Arg38Ter | |
| XM_017001151.1:c.148C>T | XP_016856640.1:p.Arg50Ter | |
| NM_183059.3:c.112C>T | NP_898882.1:p.Arg38Ter | |
| NM_001164688.2:c.112C>T MANE Select | NP_001158160.1:p.Arg38Ter |