Revel Score:
ENST00000332351
0.238
ENST00000452863 (MANE Select)
0.238
ENST00000448076
0.238
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023258 (NFE)
Genomes Max Group AF
0.00010181 (NFE)
Exomes Max Group AF
0.00023706 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32434940G>A , CM000673.2:g.32434940G>A | GRCh38 |
| NC_000011.9:g.32456486G>A , CM000673.1:g.32456486G>A | GRCh37 |
| NC_000011.8:g.32413062G>A | NCBI36 |
| NG_009272.1:g.5602C>T , LRG_525:g.5602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.421C>T | ENSP00000331327.5:p.Pro141Ser | |
| ENST00000379077.9:c.421C>T | ENSP00000368368.5:p.Pro141Ser | |
| ENST00000448076.9:c.421C>T | ENSP00000413452.5:p.Pro141Ser | |
| ENST00000452863.10:c.421C>T MANE Select | ENSP00000415516.5:p.Pro141Ser | |
| ENST00000639563.3:c.421C>T | ENSP00000492269.3:p.Pro141Ser | |
| ENST00000332351.7:c.406C>T | ENSP00000331327.3:p.Pro136Ser | |
| ENST00000379077.7:c.406C>T | ENSP00000368368.3:p.Pro136Ser | |
| ENST00000448076.7:c.406C>T | ENSP00000413452.3:p.Pro136Ser | |
| ENST00000452863.7:c.406C>T | ENSP00000415516.3:p.Pro136Ser | |
| NM_000378.4:c.406C>T | NP_000369.3:p.Pro136Ser | |
| NM_024424.3:c.406C>T | NP_077742.2:p.Pro136Ser | |
| NM_024426.4:c.406C>T | NP_077744.3:p.Pro136Ser | |
| NM_000378.5:c.421C>T | NP_000369.4:p.Pro141Ser | |
| NM_024424.4:c.421C>T | NP_077742.3:p.Pro141Ser | |
| NM_024426.5:c.421C>T | NP_077744.4:p.Pro141Ser | |
| NR_160306.1:n.600C>T | ||
| NM_000378.6:c.421C>T | NP_000369.4:p.Pro141Ser | |
| NM_024424.5:c.421C>T | NP_077742.3:p.Pro141Ser | |
| NM_024426.6:c.421C>T MANE Select | NP_077744.4:p.Pro141Ser |