gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00011331 (SAS)
Exomes Max Group AF
0.00012025 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232525249G>C , CM000664.2:g.232525249G>C | GRCh38 |
| NC_000002.11:g.233389959G>C , CM000664.1:g.233389959G>C | GRCh37 |
| NC_000002.10:g.233098203G>C | NCBI36 |
| NG_008028.1:g.4038G>C | |
| NG_031969.1:g.9787G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1555G>C MANE Select | ENSP00000479745.1:p.Gly519Arg | |
| ENST00000449534.6:c.1558G>C | ENSP00000473410.1:p.Gly520Arg | |
| ENST00000617714.1:c.1555G>C | ENSP00000479745.1:p.Gly519Arg | |
| NM_001195129.1:c.1555G>C | NP_001182058.1:p.Gly519Arg | |
| NM_001195129.2:c.1555G>C MANE Select | NP_001182058.1:p.Gly519Arg | |
| NM_001369848.1:c.1558G>C | NP_001356777.1:p.Gly520Arg |