ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128349435T>C , CM000667.2:g.128349435T>C | GRCh38 |
| NC_000005.9:g.127685127T>C , CM000667.1:g.127685127T>C | GRCh37 |
| NC_000005.8:g.127713026T>C | NCBI36 |
| NG_008750.1:g.193609A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2901A>G MANE Select | ENSP00000262464.4:p.Pro967= | |
| ENST00000262464.8:c.2901A>G | ENSP00000262464.4:p.Pro967= | |
| ENST00000508053.5:c.2901A>G | ENSP00000424571.1:p.Pro967= | |
| ENST00000508989.5:c.2802A>G | ENSP00000425596.1:p.Pro934= | |
| ENST00000619499.4:c.2898A>G | ENSP00000482132.1:p.Pro966= | |
| NM_001999.3:c.2901A>G | NP_001990.2:p.Pro967= | |
| XM_017009228.2:c.2748A>G | XP_016864717.1:p.Pro916= | |
| NM_001999.4:c.2901A>G MANE Select | NP_001990.2:p.Pro967= |