Linked Data
ClinVar Variation Id:
417246
ClinVar RCV Id:
RCV000456689
RCV000563364
RCV001152245
RCV001152244
RCV001152246
RCV001310840
RCV004535493
dbSNP Id:
rs201341132
ExAC:
5:233710 G / A
gnomAD v2:
5-233710-G-A
gnomAD v3:
5-233595-G-A
gnomAD v4:
5-233595-G-A
COSMIC:
COSM3941287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.233595G>A , CM000667.2:g.233595G>A | GRCh38 |
| NC_000005.9:g.233710G>A , CM000667.1:g.233710G>A | GRCh37 |
| NC_000005.8:g.286710G>A | NCBI36 |
| NG_012339.1:g.20355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1014G>A MANE Select | ENSP00000264932.6:p.Ala338= | |
| ENST00000651543.1:c.1014G>A | ENSP00000499215.1:p.Ala338= | |
| ENST00000264932.10:c.1014G>A | ENSP00000264932.6:p.Ala338= | |
| ENST00000504309.5:c.1014G>A | ENSP00000426514.1:p.Ala338= | |
| ENST00000504824.5:n.999G>A | ||
| ENST00000505555.5:n.1054G>A | ||
| ENST00000510361.5:c.870G>A | ENSP00000427703.1:p.Ala290= | |
| ENST00000512962.5:n.177G>A | ||
| ENST00000514027.5:n.969G>A | ||
| ENST00000514233.1:n.524G>A | ||
| ENST00000515752.5:n.177G>A | ||
| ENST00000617470.4:c.579G>A | ENSP00000484230.1:p.Ala193= | |
| NM_001294332.1:c.870G>A | NP_001281261.1:p.Ala290= | |
| NM_004168.3:c.1014G>A | NP_004159.2:p.Ala338= | |
| XM_005248331.2:c.1014G>A | XP_005248388.1:p.Ala338= | |
| XM_011514072.1:c.1014G>A | XP_011512374.1:p.Ala338= | |
| XM_011514073.1:c.1014G>A | XP_011512375.1:p.Ala338= | |
| XR_925638.1:n.1147G>A | ||
| NM_001330758.1:c.1014G>A | NP_001317687.1:p.Ala338= | |
| XM_011514072.2:c.1014G>A | XP_011512374.1:p.Ala338= | |
| XM_011514073.2:c.1014G>A | XP_011512375.1:p.Ala338= | |
| XM_017009685.2:c.1014G>A | XP_016865174.1:p.Ala338= | |
| XM_024446143.1:c.870G>A | XP_024301911.1:p.Ala290= | |
| XR_002956167.1:n.1061G>A | ||
| NM_004168.4:c.1014G>A MANE Select | NP_004159.2:p.Ala338= | |
| NM_001294332.2:c.870G>A | NP_001281261.1:p.Ala290= | |
| NM_001330758.2:c.1014G>A | NP_001317687.1:p.Ala338= |