Revel Score:
ENST00000361874
0.101
ENST00000394003
0.101
ENST00000393999
0.101
ENST00000407639
0.101
ENST00000409438
0.101
ENST00000409240
0.101
ENST00000409868
0.101
ENST00000409567
0.101
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74363045T>G , CM000664.2:g.74363045T>G | GRCh38 |
| NC_000002.11:g.74590172T>G , CM000664.1:g.74590172T>G | GRCh37 |
| NC_000002.10:g.74443680T>G | NCBI36 |
| NG_008735.2:g.34043A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3463A>C | ENSP00000354791.4:p.Asn1155His | |
| ENST00000628224.3:c.3478A>C MANE Select | ENSP00000487279.2:p.Asn1160His | |
| ENST00000680606.1:c.3427A>C | ENSP00000505612.1:p.Asn1143His | |
| ENST00000361874.7:c.3478A>C | ENSP00000354791.3:p.Asn1160His | |
| ENST00000394003.7:c.3457A>C | ENSP00000377571.3:p.Asn1153His | |
| ENST00000409240.5:c.3352A>C | ENSP00000386406.1:p.Asn1118His | |
| ENST00000409438.5:c.3061A>C | ENSP00000387270.1:p.Asn1021His | |
| ENST00000409567.7:c.3403A>C | ENSP00000386843.3:p.Asn1135His | |
| ENST00000409868.5:c.3412A>C | ENSP00000387327.1:p.Asn1138His | |
| ENST00000434055.5:c.*762A>C | ENSP00000416711.1:n.*762A>C | |
| ENST00000451608.2:c.217A>C | ENSP00000416453.2:p.Asn73His | |
| ENST00000466110.5:n.4715A>C | ||
| ENST00000491465.5:n.1741A>C | ||
| ENST00000497666.1:n.97-1508A>C | ||
| ENST00000628224.2:c.3412A>C | ENSP00000487279.1:p.Asn1138His | |
| ENST00000633691.1:c.3076A>C | ENSP00000487724.1:p.Asn1026His | |
| NM_001135040.2:c.3403A>C | NP_001128512.1:p.Asn1135His | |
| NM_001135041.2:c.3061A>C | NP_001128513.1:p.Asn1021His | |
| NM_001190836.1:c.3352A>C | NP_001177765.1:p.Asn1118His | |
| NM_001190837.1:c.3457A>C | NP_001177766.1:p.Asn1153His | |
| NM_004082.4:c.3478A>C | NP_004073.2:p.Asn1160His | |
| NM_023019.3:c.3076A>C | NP_075408.1:p.Asn1026His | |
| NR_033935.1:n.3747A>C | ||
| NM_001135040.3:c.3403A>C | NP_001128512.1:p.Asn1135His | |
| NM_001135041.3:c.3061A>C | NP_001128513.1:p.Asn1021His | |
| NM_001190836.2:c.3352A>C | NP_001177765.1:p.Asn1118His | |
| NM_001190837.2:c.3457A>C | NP_001177766.1:p.Asn1153His | |
| NM_001378991.1:c.3427A>C | NP_001365920.1:p.Asn1143His | |
| NM_001378992.1:c.3409A>C | NP_001365921.1:p.Asn1137His | |
| NM_004082.5:c.3478A>C MANE Select | NP_004073.2:p.Asn1160His | |
| NM_023019.4:c.3076A>C | NP_075408.1:p.Asn1026His | |
| NR_033935.2:n.3526A>C |