Linked Data
ClinVar Variation Id:
288876
dbSNP Id:
rs556999563
ExAC:
7:157202503 G / A
gnomAD v2:
7-157202503-G-A
gnomAD v3:
7-157409809-G-A
gnomAD v4:
7-157409809-G-A
COSMIC:
COSM4805221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157409809G>A , CM000669.2:g.157409809G>A | GRCh38 |
| NC_000007.13:g.157202503G>A , CM000669.1:g.157202503G>A | GRCh37 |
| NC_000007.12:g.156895264G>A | NCBI36 |
| NG_032573.1:g.77794G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.706G>A MANE Select | ENSP00000262177.4:p.Asp236Asn | |
| ENST00000262177.8:c.706G>A | ENSP00000262177.4:p.Asp236Asn | |
| ENST00000443280.5:c.361G>A | ENSP00000396267.1:p.Asp121Asn | |
| ENST00000459889.5:c.706G>A | ENSP00000488263.1:p.Asp236Asn | |
| ENST00000465908.5:n.502G>A | ||
| ENST00000634080.1:c.706G>A | ENSP00000488740.1:p.Asp236Asn | |
| NM_058246.3:c.706G>A | NP_490647.1:p.Asp236Asn | |
| XM_005249515.2:c.706G>A | XP_005249572.1:p.Asp236Asn | |
| XM_005249516.2:c.706G>A | XP_005249573.1:p.Asp236Asn | |
| XM_006715823.1:c.692-6207G>A | XP_006715886.1:n.692-6207G>A | |
| XM_011515704.1:c.706G>A | XP_011514006.1:p.Asp236Asn | |
| NM_001363676.1:c.361G>A | NP_001350605.1:p.Asp121Asn | |
| XM_005249515.3:c.706G>A | XP_005249572.1:p.Asp236Asn | |
| XM_006715823.2:c.692-6207G>A | XP_006715886.1:n.692-6207G>A | |
| NM_058246.4:c.706G>A MANE Select | NP_490647.1:p.Asp236Asn |