Revel Score:
ENST00000398860
0.669
ENST00000398855
0.669
ENST00000224721 (MANE Select)
0.669
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000359 (SAS)
Exomes Max Group AF
0.00003769 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71791215G>A , CM000672.2:g.71791215G>A | GRCh38 |
| NC_000010.10:g.73550972G>A , CM000672.1:g.73550972G>A | GRCh37 |
| NC_000010.9:g.73220978G>A | NCBI36 |
| NG_008835.1:g.399269G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6133G>A MANE Select | ENSP00000224721.9:p.Asp2045Asn | |
| ENST00000224721.10:c.6148G>A | ENSP00000224721.8:p.Asp2050Asn | |
| ENST00000622827.4:c.6133G>A | ENSP00000483211.1:p.Asp2045Asn | |
| NM_022124.5:c.6133G>A | NP_071407.4:p.Asp2045Asn | |
| XM_006717940.2:c.6328G>A | XP_006718003.1:p.Asp2110Asn | |
| XM_006717942.2:c.6262G>A | XP_006718005.1:p.Asp2088Asn | |
| XM_011540039.1:c.6325G>A | XP_011538341.1:p.Asp2109Asn | |
| XM_011540040.1:c.6322G>A | XP_011538342.1:p.Asp2108Asn | |
| XM_011540041.1:c.6268G>A | XP_011538343.1:p.Asp2090Asn | |
| XM_011540042.1:c.6328G>A | XP_011538344.1:p.Asp2110Asn | |
| XM_011540043.1:c.6328G>A | XP_011538345.1:p.Asp2110Asn | |
| XM_011540044.1:c.6193G>A | XP_011538346.1:p.Asp2065Asn | |
| XM_011540045.1:c.6328G>A | XP_011538347.1:p.Asp2110Asn | |
| XM_011540046.1:c.5788G>A | XP_011538348.1:p.Asp1930Asn | |
| XM_011540047.1:c.5146G>A | XP_011538349.1:p.Asp1716Asn | |
| XM_011540048.1:c.6328G>A | XP_011538350.1:p.Asp2110Asn | |
| XM_011540049.1:c.6328G>A | XP_011538351.1:p.Asp2110Asn | |
| XM_011540050.1:c.6328G>A | XP_011538352.1:p.Asp2110Asn | |
| XM_011540051.1:c.6328G>A | XP_011538353.1:p.Asp2110Asn | |
| XM_011540052.1:c.2656G>A | XP_011538354.1:p.Asp886Asn | |
| XR_945796.1:n.6571G>A | ||
| NM_022124.6:c.6133G>A MANE Select | NP_071407.4:p.Asp2045Asn |