Linked Data
ClinVar Variation Id:
2720201
ClinVar RCV Id:
RCV003546403
dbSNP Id:
rs200550937
ExAC:
4:126239875 A / T
gnomAD v2:
4-126239875-A-T
gnomAD v3:
4-125318720-A-T
gnomAD v4:
4-125318720-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125318720A>T , CM000666.2:g.125318720A>T | GRCh38 |
| NC_000004.11:g.126239875A>T , CM000666.1:g.126239875A>T | GRCh37 |
| NC_000004.10:g.126459325A>T | NCBI36 |
| NG_033865.1:g.7309A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.2309A>T MANE Select | ENSP00000377862.4:p.Asn770Ile | |
| ENST00000674496.2:c.-55+2743A>T | ENSP00000501473.2:n.-55+2743A>T | |
| ENST00000394329.7:c.2309A>T | ENSP00000377862.3:p.Asn770Ile | |
| NM_001291285.1:c.2309A>T | NP_001278214.1:p.Asn770Ile | |
| NM_001291303.1:c.2309A>T | NP_001278232.1:p.Asn770Ile | |
| NM_024582.4:c.2309A>T | NP_078858.4:p.Asn770Ile | |
| XM_011532236.1:c.2309A>T | XP_011530538.1:p.Asn770Ile | |
| XM_011532237.1:c.-55+2743A>T | XP_011530539.1:n.-55+2743A>T | |
| XM_011532236.2:c.2309A>T | XP_011530538.1:p.Asn770Ile | |
| XM_011532237.2:c.-55+2743A>T | XP_011530539.1:n.-55+2743A>T | |
| NM_001291285.2:c.2309A>T | NP_001278214.1:p.Asn770Ile | |
| NM_001291303.3:c.2309A>T MANE Select | NP_001278232.1:p.Asn770Ile | |
| NM_024582.5:c.2309A>T | NP_078858.4:p.Asn770Ile | |
| NM_001291285.3:c.2309A>T | NP_001278214.1:p.Asn770Ile | |
| NM_024582.6:c.2309A>T | NP_078858.4:p.Asn770Ile |