gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00231316 (AFR)
Genomes Max Group AF
0.00246827 (AFR)
Exomes Max Group AF
0.00185925 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868041C>T , CM000673.2:g.65868041C>T | GRCh38 |
| NC_000011.9:g.65635512C>T , CM000673.1:g.65635512C>T | GRCh37 |
| NC_000011.8:g.65392088C>T | NCBI36 |
| NG_012304.2:g.9894G>A | |
| NG_053116.1:g.12980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.990G>A MANE Select | ENSP00000309953.6:p.Pro330= | |
| ENST00000307998.10:c.990G>A | ENSP00000309953.6:p.Pro330= | |
| ENST00000525392.1:n.151G>A | ||
| ENST00000526628.5:n.1556G>A | ||
| ENST00000528176.5:c.990G>A | ENSP00000434151.1:p.Pro330= | |
| ENST00000528409.1:n.223G>A | ||
| ENST00000530806.5:c.-24-28G>A | ENSP00000436526.1:n.-24-28G>A | |
| ENST00000531005.5:n.1984G>A | ||
| ENST00000531645.5:c.138G>A | ENSP00000436521.1:p.Pro46= | |
| ENST00000531972.5:c.990G>A | ENSP00000435295.1:p.Pro330= | |
| ENST00000532084.5:n.416G>A | ||
| NM_016938.4:c.990G>A | NP_058634.4:p.Pro330= | |
| NR_037718.1:n.1249G>A | ||
| NM_016938.5:c.990G>A MANE Select | NP_058634.4:p.Pro330= | |
| NR_037718.2:n.1115G>A |