Linked Data
ClinVar Variation Id:
371975
ClinVar RCV Id:
RCV000411606
RCV000463749
RCV000498298
RCV000563279
RCV000765832
RCV001153526
RCV001153527
RCV001153528
RCV003475997
RCV003483608
dbSNP Id:
rs199844384
ExAC:
5:233751 G / A
gnomAD v2:
5-233751-G-A
gnomAD v3:
5-233636-G-A
gnomAD v4:
5-233636-G-A
COSMIC:
COSM1671473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.233636G>A , CM000667.2:g.233636G>A | GRCh38 |
| NC_000005.9:g.233751G>A , CM000667.1:g.233751G>A | GRCh37 |
| NC_000005.8:g.286751G>A | NCBI36 |
| NG_012339.1:g.20396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1055G>A MANE Select | ENSP00000264932.6:p.Arg352Gln | |
| ENST00000651543.1:c.1055G>A | ENSP00000499215.1:p.Arg352Gln | |
| ENST00000264932.10:c.1055G>A | ENSP00000264932.6:p.Arg352Gln | |
| ENST00000504309.5:c.1055G>A | ENSP00000426514.1:p.Arg352Gln | |
| ENST00000504824.5:n.1040G>A | ||
| ENST00000505555.5:n.1095G>A | ||
| ENST00000510361.5:c.911G>A | ENSP00000427703.1:p.Arg304Gln | |
| ENST00000512962.5:n.218G>A | ||
| ENST00000514027.5:n.1010G>A | ||
| ENST00000515752.5:n.218G>A | ||
| ENST00000617470.4:c.620G>A | ENSP00000484230.1:p.Arg207Gln | |
| NM_001294332.1:c.911G>A | NP_001281261.1:p.Arg304Gln | |
| NM_004168.3:c.1055G>A | NP_004159.2:p.Arg352Gln | |
| XM_005248331.2:c.1055G>A | XP_005248388.1:p.Arg352Gln | |
| XM_011514072.1:c.1055G>A | XP_011512374.1:p.Arg352Gln | |
| XM_011514073.1:c.1055G>A | XP_011512375.1:p.Arg352Gln | |
| XR_925638.1:n.1188G>A | ||
| NM_001330758.1:c.1055G>A | NP_001317687.1:p.Arg352Gln | |
| XM_011514072.2:c.1055G>A | XP_011512374.1:p.Arg352Gln | |
| XM_011514073.2:c.1055G>A | XP_011512375.1:p.Arg352Gln | |
| XM_017009685.2:c.1055G>A | XP_016865174.1:p.Arg352Gln | |
| XM_024446143.1:c.911G>A | XP_024301911.1:p.Arg304Gln | |
| XR_002956167.1:n.1102G>A | ||
| NM_004168.4:c.1055G>A MANE Select | NP_004159.2:p.Arg352Gln | |
| NM_001294332.2:c.911G>A | NP_001281261.1:p.Arg304Gln | |
| NM_001330758.2:c.1055G>A | NP_001317687.1:p.Arg352Gln |