Linked Data
ClinVar Variation Id:
291131
dbSNP Id:
rs150709673
ExAC:
7:157175022 G / A
gnomAD v2:
7-157175022-G-A
gnomAD v3:
7-157382328-G-A
gnomAD v4:
7-157382328-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157382328G>A , CM000669.2:g.157382328G>A | GRCh38 |
| NC_000007.13:g.157175022G>A , CM000669.1:g.157175022G>A | GRCh37 |
| NC_000007.12:g.156867783G>A | NCBI36 |
| NG_032573.1:g.50313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.429G>A MANE Select | ENSP00000262177.4:p.Ala143= | |
| ENST00000262177.8:c.429G>A | ENSP00000262177.4:p.Ala143= | |
| ENST00000417758.5:c.429G>A | ENSP00000400665.1:p.Ala143= | |
| ENST00000429029.6:c.429G>A | ENSP00000397556.2:p.Ala143= | |
| ENST00000441561.5:c.429G>A | ENSP00000410643.1:p.Ala143= | |
| ENST00000443280.5:c.346+14845G>A | ENSP00000396267.1:n.346+14845G>A | |
| ENST00000459889.5:c.429G>A | ENSP00000488263.1:p.Ala143= | |
| ENST00000465908.5:n.225G>A | ||
| ENST00000468928.5:n.734G>A | ||
| ENST00000486247.1:n.249G>A | ||
| ENST00000487480.1:n.4204G>A | ||
| ENST00000634080.1:c.429G>A | ENSP00000488740.1:p.Ala143= | |
| NM_005494.2:c.429G>A | NP_005485.1:p.Ala143= | |
| NM_058246.3:c.429G>A | NP_490647.1:p.Ala143= | |
| XM_005249515.2:c.429G>A | XP_005249572.1:p.Ala143= | |
| XM_005249516.2:c.429G>A | XP_005249573.1:p.Ala143= | |
| XM_006715823.1:c.429G>A | XP_006715886.1:p.Ala143= | |
| XM_011515704.1:c.429G>A | XP_011514006.1:p.Ala143= | |
| NM_001363676.1:c.346+14845G>A | NP_001350605.1:n.346+14845G>A | |
| XM_005249515.3:c.429G>A | XP_005249572.1:p.Ala143= | |
| XM_006715823.2:c.429G>A | XP_006715886.1:p.Ala143= | |
| NM_058246.4:c.429G>A MANE Select | NP_490647.1:p.Ala143= | |
| NM_005494.3:c.429G>A | NP_005485.1:p.Ala143= |