gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018816 (EAS)
Genomes Max Group AF
0.00001923 (AFR)
Exomes Max Group AF
0.00021265 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41975753G>C , CM000681.2:g.41975753G>C | GRCh38 |
| NC_000019.9:g.42479905G>C , CM000681.1:g.42479905G>C | GRCh37 |
| NC_000019.8:g.47171745G>C | NCBI36 |
| NG_008015.1:g.23478C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2178C>G | ENSP00000444688.1:p.Pro726= | |
| ENST00000644613.1:c.2139C>G | ENSP00000494711.1:p.Pro713= | |
| ENST00000648268.1:c.2139C>G MANE Select | ENSP00000498113.1:p.Pro713= | |
| ENST00000302102.9:c.2139C>G | ENSP00000302397.5:p.Pro713= | |
| ENST00000441343.5:c.2139C>G | ENSP00000411503.1:p.Pro713= | |
| ENST00000543770.5:c.2172C>G | ENSP00000437577.1:p.Pro724= | |
| ENST00000545399.5:c.2178C>G | ENSP00000444688.1:p.Pro726= | |
| ENST00000602133.5:c.2049C>G | ENSP00000471581.1:p.Pro683= | |
| NM_001256213.1:c.2172C>G | NP_001243142.1:p.Pro724= | |
| NM_001256214.1:c.2178C>G | NP_001243143.1:p.Pro726= | |
| NM_152296.4:c.2139C>G | NP_689509.1:p.Pro713= | |
| XM_011526991.1:c.2049C>G | XP_011525293.1:p.Pro683= | |
| NM_152296.5:c.2139C>G MANE Select | NP_689509.1:p.Pro713= | |
| NM_001256214.2:c.2178C>G | NP_001243143.1:p.Pro726= | |
| NM_001256213.2:c.2172C>G | NP_001243142.1:p.Pro724= |