gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010376 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0001078 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50302111C>T , CM000665.2:g.50302111C>T | GRCh38 |
| NC_000003.11:g.50339542C>T , CM000665.1:g.50339542C>T | GRCh37 |
| NC_000003.10:g.50314546C>T | NCBI36 |
| NG_009295.1:g.15271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395144.7:c.846G>A MANE Select | ENSP00000378576.2:p.Pro282= | |
| ENST00000266031.8:c.846G>A | ENSP00000266031.4:p.Pro282= | |
| ENST00000320295.12:c.846G>A | ENSP00000346068.5:p.Pro282= | |
| ENST00000395143.6:c.846G>A | ENSP00000378575.2:p.Pro282= | |
| ENST00000395144.6:c.846G>A | ENSP00000378576.2:p.Pro282= | |
| ENST00000447605.2:c.69G>A | ENSP00000390149.2:p.Pro23= | |
| ENST00000457214.6:c.300G>A | ENSP00000393358.2:p.Pro100= | |
| ENST00000618175.4:c.846G>A | ENSP00000477903.1:p.Pro282= | |
| NM_033159.3:c.846G>A | NP_149349.2:p.Pro282= | |
| NM_153281.1:c.846G>A | NP_695013.1:p.Pro282= | |
| NM_153282.2:c.846G>A | NP_695014.1:p.Pro282= | |
| NM_153283.2:c.300G>A | NP_695015.1:p.Pro100= | |
| NM_153285.2:c.69G>A | NP_695017.1:p.Pro23= | |
| NR_047690.1:n.1491G>A | ||
| XM_011533667.1:c.846G>A | XP_011531969.1:p.Pro282= | |
| XM_011533668.1:c.846G>A | XP_011531970.1:p.Pro282= | |
| XM_011533669.1:c.846G>A | XP_011531971.1:p.Pro282= | |
| XM_011533667.2:c.846G>A | XP_011531969.1:p.Pro282= | |
| XM_011533668.2:c.846G>A | XP_011531970.1:p.Pro282= | |
| XM_011533669.2:c.846G>A | XP_011531971.1:p.Pro282= | |
| NM_033159.4:c.846G>A MANE Select | NP_149349.2:p.Pro282= | |
| NM_153282.3:c.846G>A | NP_695014.1:p.Pro282= | |
| NM_153283.3:c.300G>A | NP_695015.1:p.Pro100= | |
| NM_153285.3:c.69G>A | NP_695017.1:p.Pro23= | |
| NR_047690.2:n.1464G>A | ||
| NM_153281.2:c.846G>A | NP_695013.1:p.Pro282= |