Linked Data
ClinVar Variation Id:
252904
ClinVar RCV Id:
RCV000239366
RCV000570639
RCV001152241
RCV001152242
RCV001152243
RCV001705321
RCV001820792
RCV003316318
RCV004535211
dbSNP Id:
rs144252500
ExAC:
5:233698 G / A
gnomAD v2:
5-233698-G-A
gnomAD v3:
5-233583-G-A
gnomAD v4:
5-233583-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.233583G>A , CM000667.2:g.233583G>A | GRCh38 |
| NC_000005.9:g.233698G>A , CM000667.1:g.233698G>A | GRCh37 |
| NC_000005.8:g.286698G>A | NCBI36 |
| NG_012339.1:g.20343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1002G>A MANE Select | ENSP00000264932.6:p.Ala334= | |
| ENST00000651543.1:c.1002G>A | ENSP00000499215.1:p.Ala334= | |
| ENST00000264932.10:c.1002G>A | ENSP00000264932.6:p.Ala334= | |
| ENST00000504309.5:c.1002G>A | ENSP00000426514.1:p.Ala334= | |
| ENST00000504824.5:n.987G>A | ||
| ENST00000505555.5:n.1042G>A | ||
| ENST00000510361.5:c.858G>A | ENSP00000427703.1:p.Ala286= | |
| ENST00000512962.5:n.165G>A | ||
| ENST00000514027.5:n.957G>A | ||
| ENST00000514233.1:n.512G>A | ||
| ENST00000515752.5:n.165G>A | ||
| ENST00000617470.4:c.567G>A | ENSP00000484230.1:p.Ala189= | |
| NM_001294332.1:c.858G>A | NP_001281261.1:p.Ala286= | |
| NM_004168.3:c.1002G>A | NP_004159.2:p.Ala334= | |
| XM_005248331.2:c.1002G>A | XP_005248388.1:p.Ala334= | |
| XM_011514072.1:c.1002G>A | XP_011512374.1:p.Ala334= | |
| XM_011514073.1:c.1002G>A | XP_011512375.1:p.Ala334= | |
| XR_925638.1:n.1135G>A | ||
| NM_001330758.1:c.1002G>A | NP_001317687.1:p.Ala334= | |
| XM_011514072.2:c.1002G>A | XP_011512374.1:p.Ala334= | |
| XM_011514073.2:c.1002G>A | XP_011512375.1:p.Ala334= | |
| XM_017009685.2:c.1002G>A | XP_016865174.1:p.Ala334= | |
| XM_024446143.1:c.858G>A | XP_024301911.1:p.Ala286= | |
| XR_002956167.1:n.1049G>A | ||
| NM_004168.4:c.1002G>A MANE Select | NP_004159.2:p.Ala334= | |
| NM_001294332.2:c.858G>A | NP_001281261.1:p.Ala286= | |
| NM_001330758.2:c.1002G>A | NP_001317687.1:p.Ala334= |