gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006881 (MID)
Exomes Max Group AF
0.00007296 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232525489C>A , CM000664.2:g.232525489C>A | GRCh38 |
| NC_000002.11:g.233390199C>A , CM000664.1:g.233390199C>A | GRCh37 |
| NC_000002.10:g.233098443C>A | NCBI36 |
| NG_008028.1:g.4278C>A | |
| NG_031969.1:g.10027C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1795C>A MANE Select | ENSP00000479745.1:p.Pro599Thr | |
| ENST00000449534.6:c.1798C>A | ENSP00000473410.1:p.Pro600Thr | |
| ENST00000617714.1:c.1795C>A | ENSP00000479745.1:p.Pro599Thr | |
| NM_001195129.1:c.1795C>A | NP_001182058.1:p.Pro599Thr | |
| NM_001195129.2:c.1795C>A MANE Select | NP_001182058.1:p.Pro599Thr | |
| NM_001369848.1:c.1798C>A | NP_001356777.1:p.Pro600Thr |