Revel Score:
ENST00000343070 (MANE Select)
0.789
ENST00000307331
0.789
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000606 (NFE)
Exomes Max Group AF
0.00006344 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23367959G>A , CM000678.2:g.23367959G>A | GRCh38 |
| NC_000016.9:g.23379280G>A , CM000678.1:g.23379280G>A | GRCh37 |
| NC_000016.8:g.23286781G>A | NCBI36 |
| NG_011908.1:g.70690G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343070.7:c.880G>A MANE Select | ENSP00000345751.2:p.Gly294Ser | |
| ENST00000307331.9:c.1015G>A | ENSP00000302874.5:p.Gly339Ser | |
| ENST00000343070.6:c.880G>A | ENSP00000345751.2:p.Gly294Ser | |
| ENST00000564275.5:c.777-3340G>A | ENSP00000457754.1:n.777-3340G>A | |
| ENST00000566441.2:c.177G>A | ||
| ENST00000568085.5:c.880G>A | ENSP00000455673.1:p.Gly294Ser | |
| ENST00000568923.5:c.799G>A | ENSP00000456309.1:p.Gly267Ser | |
| NM_000336.2:c.880G>A | NP_000327.2:p.Gly294Ser | |
| XM_011545913.1:c.913G>A | XP_011544215.1:p.Gly305Ser | |
| XM_011545914.1:c.898G>A | XP_011544216.1:p.Gly300Ser | |
| XM_011545913.2:c.913G>A | XP_011544215.1:p.Gly305Ser | |
| XM_017023525.1:c.937G>A | XP_016879014.1:p.Gly313Ser | |
| XM_017023526.1:c.937G>A | XP_016879015.1:p.Gly313Ser | |
| NM_000336.3:c.880G>A MANE Select | NP_000327.2:p.Gly294Ser |