Revel Score:
ENST00000557606
0.026
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000764 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21343110C>T , CM000676.2:g.21343110C>T | GRCh38 |
| NC_000014.8:g.21811269C>T , CM000676.1:g.21811269C>T | GRCh37 |
| NC_000014.7:g.20881109C>T | NCBI36 |
| NG_008933.1:g.60134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3414C>T MANE Select | ENSP00000382895.2:p.Asn1138= | |
| ENST00000382933.8:c.1392C>T | ENSP00000372391.4:p.Asn464= | |
| ENST00000400017.6:c.3414C>T | ENSP00000382895.2:p.Asn1138= | |
| ENST00000553927.1:n.2346C>T | ||
| ENST00000555322.5:c.1841C>T | ||
| ENST00000555489.5:c.1607C>T | ENSP00000451044.1:n.1607C>T | |
| ENST00000555587.5:c.1839C>T | ENSP00000451262.1:p.Asn613= | |
| ENST00000556336.5:c.2385C>T | ENSP00000450445.1:p.Asn795= | |
| ENST00000557606.1:c.347C>T | ||
| ENST00000557771.5:c.3300C>T | ENSP00000451219.1:p.Asn1100= | |
| NM_020366.3:c.3414C>T | NP_065099.3:p.Asn1138= | |
| XM_005267879.2:c.2343C>T | XP_005267936.1:p.Asn781= | |
| XM_005267880.2:c.2310C>T | XP_005267937.1:p.Asn770= | |
| XM_005267881.2:c.1791C>T | XP_005267938.1:p.Asn597= | |
| XM_011536978.1:c.2340C>T | XP_011535280.1:p.Asn780= | |
| XM_011536979.1:c.2127C>T | XP_011535281.1:p.Asn709= | |
| XM_011536980.1:c.1998C>T | XP_011535282.1:p.Asn666= | |
| XM_011536981.1:c.1848C>T | XP_011535283.1:p.Asn616= | |
| XM_011536982.1:c.1503C>T | XP_011535284.1:p.Asn501= | |
| XM_011536983.1:c.3381C>T | XP_011535285.1:p.Asn1127= | |
| XM_005267881.3:c.1791C>T | XP_005267938.1:p.Asn597= | |
| XM_017021473.1:c.1845C>T | XP_016876962.1:p.Asn615= | |
| XM_024449663.1:c.2337C>T | XP_024305431.1:p.Asn779= | |
| XM_024449664.1:c.1842C>T | XP_024305432.1:p.Asn614= | |
| XM_024449665.1:c.1500C>T | XP_024305433.1:p.Asn500= | |
| XM_024449666.1:c.1497C>T | XP_024305434.1:p.Asn499= | |
| NM_001377523.1:c.1392C>T | NP_001364452.1:p.Asn464= | |
| NM_001377948.1:c.2340C>T | NP_001364877.1:p.Asn780= | |
| NM_001377949.1:c.1500C>T | NP_001364878.1:p.Asn500= | |
| NM_001377950.1:c.1392C>T | NP_001364879.1:p.Asn464= | |
| NM_001377951.1:c.897C>T | NP_001364880.1:p.Asn299= | |
| NM_020366.4:c.3414C>T MANE Select | NP_065099.3:p.Asn1138= |