gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133951315G>A , CM000665.2:g.133951315G>A | GRCh38 |
| NC_000003.11:g.133670159G>A , CM000665.1:g.133670159G>A | GRCh37 |
| NC_000003.10:g.135152849G>A | NCBI36 |
| NG_031964.2:g.105870C>T | |
| NG_031964.3:g.105870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310926.11:c.754C>T MANE Select | ENSP00000311291.4:p.Arg252Ter | |
| ENST00000310926.8:c.754C>T | ENSP00000311291.4:p.Arg252Ter | |
| ENST00000462770.5:n.521-2615C>T | ||
| ENST00000464676.5:n.1016C>T | ||
| ENST00000481359.3:c.754C>T | ENSP00000420028.3:p.Arg252Ter | |
| ENST00000493729.5:c.526C>T | ENSP00000418893.1:p.Arg176Ter | |
| NM_005630.2:c.754C>T | NP_005621.2:p.Arg252Ter | |
| XM_011513090.1:c.754C>T | XP_011511392.1:p.Arg252Ter | |
| XM_017007077.1:c.250C>T | XP_016862566.1:p.Arg84Ter | |
| XM_024453721.1:c.754C>T | XP_024309489.1:p.Arg252Ter | |
| NM_005630.3:c.754C>T MANE Select | NP_005621.2:p.Arg252Ter |