ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48167222A>C , CM000673.2:g.48167222A>C | GRCh38 |
| NC_000011.9:g.48188774A>C , CM000673.1:g.48188774A>C | GRCh37 |
| NC_000011.8:g.48145350A>C | NCBI36 |
| NG_012209.1:g.191665A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.4216A>C | ENSP00000514003.1:p.Asn1406His | |
| ENST00000418331.7:c.3874A>C MANE Select | ENSP00000400010.2:p.Asn1292His | |
| ENST00000418331.6:c.3874A>C | ENSP00000400010.2:p.Asn1292His | |
| ENST00000613246.4:c.3877A>C | ENSP00000477933.1:p.Asn1293His | |
| ENST00000615445.4:c.3889A>C | ENSP00000479342.1:p.Asn1297His | |
| NM_002843.3:c.3874A>C | NP_002834.3:p.Asn1292His | |
| XM_011520249.1:c.3907A>C | XP_011518551.1:p.Asn1303His | |
| XM_017018083.1:c.3952A>C | XP_016873572.1:p.Asn1318His | |
| XM_017018084.1:c.3895A>C | XP_016873573.1:p.Asn1299His | |
| XM_017018085.1:c.3826A>C | XP_016873574.1:p.Asn1276His | |
| NM_002843.4:c.3874A>C MANE Select | NP_002834.3:p.Asn1292His |