Revel Score:
ENST00000393494
0.702
ENST00000408937
0.702
ENST00000403559
0.702
ENST00000350908 (MANE Select)
0.702
ENST00000393498
0.702
ENST00000393489
0.702
ENST00000393491
0.702
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007519 (SAS)
Exomes Max Group AF
0.00008011 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114663469A>C , CM000669.2:g.114663469A>C | GRCh38 |
| NC_000007.13:g.114303524A>C , CM000669.1:g.114303524A>C | GRCh37 |
| NC_000007.12:g.114090760A>C | NCBI36 |
| NG_007491.2:g.582160A>C | |
| NG_007491.3:g.582160A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.1840A>C | ENSP00000385069.4:p.Asn614His | |
| ENST00000703612.1:c.1780A>C | ENSP00000515396.1:p.Asn594His | |
| ENST00000703613.1:c.1840A>C | ENSP00000515397.1:p.Asn614His | |
| ENST00000703614.1:c.1789A>C | ENSP00000515398.1:p.Asn597His | |
| ENST00000703616.1:c.1915A>C | ENSP00000515400.1:p.Asn639His | |
| ENST00000703617.1:c.1234A>C | ENSP00000515401.1:p.Asn412His | |
| ENST00000703618.1:c.686A>C | ||
| ENST00000350908.9:c.1789A>C MANE Select | ENSP00000265436.7:p.Asn597His | |
| ENST00000393489.8:c.*1583A>C | ENSP00000377129.4:n.*1583A>C | |
| ENST00000350908.8:c.1789A>C | ENSP00000265436.7:p.Asn597His | |
| ENST00000393489.7:c.1513A>C | ENSP00000377129.3:p.Asn505His | |
| ENST00000393491.7:c.1234A>C | ENSP00000377130.3:p.Asn412His | |
| ENST00000393494.6:c.1789A>C | ENSP00000377132.2:p.Asn597His | |
| ENST00000393498.6:c.1726A>C | ENSP00000377135.2:p.Asn576His | |
| ENST00000403559.8:c.1840A>C | ENSP00000385069.4:p.Asn614His | |
| ENST00000408937.7:c.1864A>C | ENSP00000386200.3:p.Asn622His | |
| ENST00000412402.5:c.*1507A>C | ENSP00000405470.1:n.*1507A>C | |
| ENST00000441290.6:c.*1789A>C | ENSP00000416825.1:n.*1789A>C | |
| ENST00000634411.1:c.1738A>C | ENSP00000489135.1:p.Asn580His | |
| ENST00000634623.1:c.1729A>C | ENSP00000488944.1:p.Asn577His | |
| ENST00000634664.1:n.264A>C | ||
| ENST00000635109.1:c.*1586A>C | ENSP00000489457.1:n.*1586A>C | |
| ENST00000635534.1:c.1780A>C | ENSP00000489229.1:p.Asn594His | |
| ENST00000635638.1:c.1792A>C | ENSP00000489073.1:p.Asn598His | |
| NM_001172766.2:c.1786A>C | NP_001166237.1:p.Asn596His | |
| NM_014491.3:c.1789A>C | NP_055306.1:p.Asn597His | |
| NM_148898.3:c.1864A>C | NP_683696.2:p.Asn622His | |
| NM_148900.3:c.1840A>C | NP_683698.2:p.Asn614His | |
| NR_033766.1:n.2174A>C | ||
| NR_033767.1:n.2221A>C | ||
| XM_011516706.1:c.1933A>C | XP_011515008.1:p.Asn645His | |
| XM_017012801.2:c.1864A>C | XP_016868290.1:p.Asn622His | |
| NM_014491.4:c.1789A>C MANE Select | NP_055306.1:p.Asn597His | |
| NM_001172766.3:c.1786A>C | NP_001166237.1:p.Asn596His | |
| NM_148898.4:c.1864A>C | NP_683696.2:p.Asn622His | |
| NR_033766.2:n.2157A>C | ||
| NR_033767.2:n.2403A>C | ||
| NM_148900.4:c.1840A>C | NP_683698.2:p.Asn614His |