Linked Data
ClinVar Variation Id:
239655
ClinVar RCV Id:
RCV000226282
RCV000663186
RCV000565244
RCV001153644
RCV001153645
RCV001153646
RCV002267990
RCV002253311
RCV004541404
dbSNP Id:
rs376391115
ExAC:
5:251216 G / A
gnomAD v2:
5-251216-G-A
gnomAD v3:
5-251101-G-A
gnomAD v4:
5-251101-G-A
COSMIC:
COSM738214
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.251101G>A , CM000667.2:g.251101G>A | GRCh38 |
| NC_000005.9:g.251216G>A , CM000667.1:g.251216G>A | GRCh37 |
| NC_000005.8:g.304216G>A | NCBI36 |
| NG_012339.1:g.37861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1661G>A MANE Select | ENSP00000264932.6:p.Arg554Gln | |
| ENST00000651543.1:c.*394G>A | ENSP00000499215.1:n.*394G>A | |
| ENST00000264932.10:c.1661G>A | ENSP00000264932.6:p.Arg554Gln | |
| ENST00000503674.5:n.1833G>A | ||
| ENST00000504309.5:c.1552-3292G>A | ENSP00000426514.1:n.1552-3292G>A | |
| ENST00000505555.5:n.1701G>A | ||
| ENST00000507266.1:n.408G>A | ||
| ENST00000509082.1:n.85+58G>A | ||
| ENST00000510361.5:c.1517G>A | ENSP00000427703.1:p.Arg506Gln | |
| ENST00000511810.5:n.2408G>A | ||
| ENST00000514027.5:n.1616G>A | ||
| ENST00000515752.5:n.1247G>A | ||
| ENST00000515815.5:c.207-3257G>A | ||
| ENST00000617470.4:c.1226G>A | ENSP00000484230.1:p.Arg409Gln | |
| NM_001294332.1:c.1517G>A | NP_001281261.1:p.Arg506Gln | |
| NM_004168.3:c.1661G>A | NP_004159.2:p.Arg554Gln | |
| XM_005248331.2:c.1552-3292G>A | XP_005248388.1:n.1552-3292G>A | |
| XM_011514072.1:c.1661G>A | XP_011512374.1:p.Arg554Gln | |
| XM_011514073.1:c.1552-3292G>A | XP_011512375.1:n.1552-3292G>A | |
| XR_925638.1:n.1794G>A | ||
| NM_001330758.1:c.1552-3292G>A | NP_001317687.1:n.1552-3292G>A | |
| XM_011514072.2:c.1661G>A | XP_011512374.1:p.Arg554Gln | |
| XM_011514073.2:c.1552-3292G>A | XP_011512375.1:n.1552-3292G>A | |
| XM_017009685.2:c.1661G>A | XP_016865174.1:p.Arg554Gln | |
| XM_024446143.1:c.1517G>A | XP_024301911.1:p.Arg506Gln | |
| XR_002956167.1:n.1708G>A | ||
| NM_004168.4:c.1661G>A MANE Select | NP_004159.2:p.Arg554Gln | |
| NM_001294332.2:c.1517G>A | NP_001281261.1:p.Arg506Gln | |
| NM_001330758.2:c.1552-3292G>A | NP_001317687.1:n.1552-3292G>A |