Linked Data
ClinVar Variation Id:
53745
dbSNP Id:
rs397508565
ExAC:
7:117254743 C / A
gnomAD v2:
7-117254743-C-A
gnomAD v4:
7-117614689-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614689C>A , CM000669.2:g.117614689C>A | GRCh38 |
| NC_000007.13:g.117254743C>A , CM000669.1:g.117254743C>A | GRCh37 |
| NC_000007.12:g.117041979C>A | NCBI36 |
| NG_016465.4:g.153906C>A , LRG_663:g.153906C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3444C>A | ENSP00000497673.2:p.Asn1148Lys | |
| ENST00000647978.2:c.*3158C>A | ENSP00000497658.1:n.*3158C>A | |
| ENST00000649781.2:c.3261C>A | ENSP00000497203.1:p.Asn1087Lys | |
| ENST00000685018.2:c.3444C>A | ENSP00000510194.2:p.Asn1148Lys | |
| ENST00000687278.2:c.3444C>A | ENSP00000509593.2:p.Asn1148Lys | |
| ENST00000699585.1:c.3444C>A | ENSP00000514456.1:p.Asn1148Lys | |
| ENST00000699598.1:c.3444C>A | ENSP00000514467.1:p.Asn1148Lys | |
| ENST00000699599.1:c.3444C>A | ENSP00000514468.1:p.Asn1148Lys | |
| ENST00000699600.1:c.3444C>A | ENSP00000514469.1:p.Asn1148Lys | |
| ENST00000699601.1:c.*1819C>A | ENSP00000514470.1:n.*1819C>A | |
| ENST00000699602.1:c.3438C>A | ENSP00000514471.1:p.Asn1146Lys | |
| ENST00000699604.1:c.*3268C>A | ENSP00000514472.1:n.*3268C>A | |
| ENST00000699605.1:c.3018C>A | ENSP00000514473.1:p.Asn1006Lys | |
| ENST00000685018.1:c.192C>A | ENSP00000510194.1:p.Asn64Lys | |
| ENST00000687278.1:c.1035C>A | ENSP00000509593.1:p.Asn345Lys | |
| ENST00000689011.1:c.26C>A | ||
| ENST00000003084.11:c.3444C>A MANE Select | ENSP00000003084.6:p.Asn1148Lys | |
| ENST00000647720.1:c.1094C>A | ||
| ENST00000648260.1:c.2226C>A | ENSP00000497957.1:p.Asn742Lys | |
| ENST00000649406.1:c.3261C>A | ENSP00000497965.1:p.Asn1087Lys | |
| ENST00000649781.1:c.3261C>A | ENSP00000497203.1:p.Asn1087Lys | |
| ENST00000003084.10:c.3444C>A | ENSP00000003084.6:p.Asn1148Lys | |
| ENST00000426809.5:c.3354C>A | ENSP00000389119.1:p.Asn1118Lys | |
| ENST00000468795.1:c.269C>A | ||
| NM_000492.3:c.3444C>A , LRG_663t1:c.3444C>A | NP_000483.3:p.Asn1148Lys | |
| XM_011515751.1:c.3534C>A | XP_011514053.1:p.Asn1178Lys | |
| XM_011515752.1:c.3534C>A | XP_011514054.1:p.Asn1178Lys | |
| XM_011515753.1:c.3201C>A | XP_011514055.1:p.Asn1067Lys | |
| XM_011515754.1:c.3201C>A | XP_011514056.1:p.Asn1067Lys | |
| NM_000492.4:c.3444C>A MANE Select | NP_000483.3:p.Asn1148Lys |