Revel Score:
ENST00000379802 (MANE Select)
0.240
ENST00000418664
0.240
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583677A>G , CM000668.2:g.7583677A>G | GRCh38 |
| NC_000006.11:g.7583910A>G , CM000668.1:g.7583910A>G | GRCh37 |
| NC_000006.10:g.7528909A>G | NCBI36 |
| NG_008803.1:g.47041A>G , LRG_423:g.47041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.5086A>G | ENSP00000518230.1:p.Asn1696Asp | |
| ENST00000379802.8:c.6415A>G MANE Select | ENSP00000369129.3:p.Asn2139Asp | |
| ENST00000379802.7:c.6415A>G | ENSP00000369129.3:p.Asn2139Asp | |
| ENST00000418664.2:c.4618A>G | ENSP00000396591.2:p.Asn1540Asp | |
| NM_001008844.1:c.4618A>G | NP_001008844.1:p.Asn1540Asp | |
| NM_004415.2:c.6415A>G , LRG_423t1:c.6415A>G | NP_004406.2:p.Asn2139Asp | |
| XM_011514323.1:c.5086A>G | XP_011512625.1:p.Asn1696Asp | |
| NM_001008844.2:c.4618A>G | NP_001008844.1:p.Asn1540Asp | |
| NM_001319034.1:c.5086A>G | NP_001305963.1:p.Asn1696Asp | |
| NM_004415.3:c.6415A>G | NP_004406.2:p.Asn2139Asp | |
| NM_004415.4:c.6415A>G MANE Select | NP_004406.2:p.Asn2139Asp | |
| NM_001008844.3:c.4618A>G | NP_001008844.1:p.Asn1540Asp | |
| NM_001319034.2:c.5086A>G | NP_001305963.1:p.Asn1696Asp |