gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130494926C>T , CM000671.2:g.130494926C>T | GRCh38 |
| NC_000009.11:g.133370313C>T , CM000671.1:g.133370313C>T | GRCh37 |
| NC_000009.10:g.132360134C>T | NCBI36 |
| NG_011542.1:g.55220C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1030C>T MANE Select | ENSP00000253004.6:p.Arg344Ter | |
| ENST00000352480.9:c.1030C>T | ENSP00000253004.6:p.Arg344Ter | |
| ENST00000372386.6:n.301C>T | ||
| ENST00000372393.7:c.1030C>T | ENSP00000361469.2:p.Arg344Ter | |
| ENST00000372394.5:c.1030C>T | ENSP00000361471.1:p.Arg344Ter | |
| NM_000050.4:c.1030C>T | NP_000041.2:p.Arg344Ter | |
| NM_054012.3:c.1030C>T | NP_446464.1:p.Arg344Ter | |
| XM_005272200.2:c.1030C>T | XP_005272257.1:p.Arg344Ter | |
| XM_011518705.1:c.1144C>T | XP_011517007.1:p.Arg382Ter | |
| XR_930393.1:n.1060-2669G>A | ||
| XM_005272200.3:c.1030C>T | XP_005272257.1:p.Arg344Ter | |
| XM_011518705.2:c.1144C>T | XP_011517007.1:p.Arg382Ter | |
| XM_017014729.1:c.1126C>T | XP_016870218.1:p.Arg376Ter | |
| XR_930393.2:n.1102-2669G>A | ||
| NM_054012.4:c.1030C>T MANE Select | NP_446464.1:p.Arg344Ter |