Linked Data
ClinVar Variation Id:
1522585
ClinVar RCV Id:
RCV002036121
dbSNP Id:
rs765379022
ExAC:
4:39274629 A / T
gnomAD v2:
4-39274629-A-T
gnomAD v4:
4-39273009-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39273009A>T , CM000666.2:g.39273009A>T | GRCh38 |
| NC_000004.11:g.39274629A>T , CM000666.1:g.39274629A>T | GRCh37 |
| NC_000004.10:g.38951024A>T | NCBI36 |
| NG_031813.1:g.95606A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3513A>T MANE Select | ENSP00000382717.3:p.Lys1171Asn | |
| ENST00000399820.7:c.3513A>T | ENSP00000382717.3:p.Lys1171Asn | |
| ENST00000506869.5:c.*3094A>T | ENSP00000424319.1:n.*3094A>T | |
| ENST00000512095.5:n.2511A>T | ||
| ENST00000512534.5:n.78A>T | ||
| NM_025132.3:c.3513A>T | NP_079408.3:p.Lys1171Asn | |
| XM_011513724.1:c.3525A>T | XP_011512026.1:p.Lys1175Asn | |
| XM_011513725.1:c.3459A>T | XP_011512027.1:p.Lys1153Asn | |
| XM_011513726.1:c.3045A>T | XP_011512028.1:p.Lys1015Asn | |
| XM_011513727.1:c.3045A>T | XP_011512029.1:p.Lys1015Asn | |
| XM_011513728.1:c.3033A>T | XP_011512030.1:p.Lys1011Asn | |
| XR_925155.1:n.3589A>T | ||
| NM_001317924.1:c.3033A>T | NP_001304853.1:p.Lys1011Asn | |
| XM_011513725.2:c.3459A>T | XP_011512027.1:p.Lys1153Asn | |
| XM_011513726.3:c.3045A>T | XP_011512028.1:p.Lys1015Asn | |
| XM_017008501.1:c.3033A>T | XP_016863990.1:p.Lys1011Asn | |
| XR_001741306.1:n.3589A>T | ||
| XR_001741307.1:n.3577A>T | ||
| XR_001741308.1:n.3589A>T | ||
| XR_001741309.1:n.3577A>T | ||
| XR_001741310.1:n.3577A>T | ||
| XR_001741311.2:n.3426A>T | ||
| NM_025132.4:c.3513A>T MANE Select | NP_079408.3:p.Lys1171Asn | |
| NM_001317924.2:c.3033A>T | NP_001304853.1:p.Lys1011Asn |