Revel Score:
ENST00000269228 (MANE Select)
0.610
ENST00000412552
0.610
ENST00000540608
0.610
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539823T>G , CM000680.2:g.23539823T>G | GRCh38 |
| NC_000018.9:g.21119787T>G , CM000680.1:g.21119787T>G | GRCh37 |
| NC_000018.8:g.19373785T>G | NCBI36 |
| NG_012795.1:g.51795A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2783A>C MANE Select | ENSP00000269228.4:p.Gln928Pro | |
| ENST00000269228.9:c.2783A>C | ENSP00000269228.4:p.Gln928Pro | |
| ENST00000540608.5:n.2697A>C | ||
| ENST00000586718.1:n.574A>C | ||
| ENST00000591051.1:c.1861A>C | ||
| ENST00000591075.1:n.76A>C | ||
| NM_000271.4:c.2783A>C | NP_000262.2:p.Gln928Pro | |
| XM_005258277.1:c.2834A>C | XP_005258334.1:p.Gln945Pro | |
| XM_005258278.3:c.2834A>C | XP_005258335.1:p.Gln945Pro | |
| XM_005258279.1:c.2783A>C | XP_005258336.1:p.Gln928Pro | |
| XM_006722479.2:c.2834A>C | XP_006722542.1:p.Gln945Pro | |
| XM_011526015.1:c.2369A>C | XP_011524317.1:p.Gln790Pro | |
| XM_005258278.5:c.2834A>C | XP_005258335.1:p.Gln945Pro | |
| XM_005258279.2:c.2783A>C | XP_005258336.1:p.Gln928Pro | |
| XM_006722479.3:c.2834A>C | XP_006722542.1:p.Gln945Pro | |
| XM_017025784.1:c.2834A>C | XP_016881273.1:p.Gln945Pro | |
| XM_017025785.1:c.2834A>C | XP_016881274.1:p.Gln945Pro | |
| XM_017025786.1:c.2783A>C | XP_016881275.1:p.Gln928Pro | |
| XM_017025787.1:c.2783A>C | XP_016881276.1:p.Gln928Pro | |
| NM_000271.5:c.2783A>C MANE Select | NP_000262.2:p.Gln928Pro |