Linked Data
ClinVar Variation Id:
239687
ClinVar RCV Id:
RCV000225880
RCV000410721
RCV000571153
RCV001589187
RCV002478861
RCV003475078
RCV004532891
dbSNP Id:
rs752532780
ExAC:
5:223625 G / A
gnomAD v2:
5-223625-G-A
gnomAD v3:
5-223510-G-A
gnomAD v4:
5-223510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.223510G>A , CM000667.2:g.223510G>A | GRCh38 |
| NC_000005.9:g.223625G>A , CM000667.1:g.223625G>A | GRCh37 |
| NC_000005.8:g.276625G>A | NCBI36 |
| NG_012339.1:g.10270G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.92G>A MANE Select | ENSP00000264932.6:p.Arg31Gln | |
| ENST00000651543.1:c.92G>A | ENSP00000499215.1:p.Arg31Gln | |
| ENST00000264932.10:c.92G>A | ENSP00000264932.6:p.Arg31Gln | |
| ENST00000502379.5:n.137G>A | ||
| ENST00000504309.5:c.92G>A | ENSP00000426514.1:p.Arg31Gln | |
| ENST00000504824.5:n.77G>A | ||
| ENST00000505555.5:n.132G>A | ||
| ENST00000509632.5:c.190G>A | ENSP00000425077.1:p.Glu64Lys | |
| ENST00000510361.5:c.92G>A | ENSP00000427703.1:p.Arg31Gln | |
| ENST00000617470.4:c.92G>A | ENSP00000484230.1:p.Arg31Gln | |
| NM_001294332.1:c.92G>A | NP_001281261.1:p.Arg31Gln | |
| NM_004168.3:c.92G>A | NP_004159.2:p.Arg31Gln | |
| XM_005248331.2:c.92G>A | XP_005248388.1:p.Arg31Gln | |
| XM_011514072.1:c.92G>A | XP_011512374.1:p.Arg31Gln | |
| XM_011514073.1:c.92G>A | XP_011512375.1:p.Arg31Gln | |
| XR_925638.1:n.225G>A | ||
| NM_001330758.1:c.92G>A | NP_001317687.1:p.Arg31Gln | |
| XM_011514072.2:c.92G>A | XP_011512374.1:p.Arg31Gln | |
| XM_011514073.2:c.92G>A | XP_011512375.1:p.Arg31Gln | |
| XM_017009685.2:c.92G>A | XP_016865174.1:p.Arg31Gln | |
| XM_024446143.1:c.92G>A | XP_024301911.1:p.Arg31Gln | |
| XR_002956167.1:n.139G>A | ||
| NM_004168.4:c.92G>A MANE Select | NP_004159.2:p.Arg31Gln | |
| NM_001294332.2:c.92G>A | NP_001281261.1:p.Arg31Gln | |
| NM_001330758.2:c.92G>A | NP_001317687.1:p.Arg31Gln |