Linked Data
ClinVar Variation Id:
945215
ClinVar RCV Id:
RCV001215799
dbSNP Id:
rs1556790802
gnomAD v2:
X-47065402-G-A
gnomAD v4:
X-47206003-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47206003G>A , CM000685.2:g.47206003G>A | GRCh38 |
| NC_000023.10:g.47065402G>A , CM000685.1:g.47065402G>A | GRCh37 |
| NC_000023.9:g.46950346G>A | NCBI36 |
| NG_009161.1:g.20204G>A | |
| NG_021353.1:g.6156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335972.11:c.1631G>A MANE Select | ENSP00000338413.6:p.Arg544Gln | |
| ENST00000335972.10:c.1631G>A | ENSP00000338413.6:p.Arg544Gln | |
| ENST00000377351.8:c.1631G>A | ENSP00000366568.4:p.Arg544Gln | |
| ENST00000490869.1:n.465-75G>A | ||
| NM_003334.3:c.1631G>A | NP_003325.2:p.Arg544Gln | |
| NM_153280.2:c.1631G>A | NP_695012.1:p.Arg544Gln | |
| XM_005272649.1:c.1649G>A | XP_005272706.1:p.Arg550Gln | |
| XM_005272650.1:c.1631G>A | XP_005272707.1:p.Arg544Gln | |
| XM_011543953.1:c.1715G>A | XP_011542255.1:p.Arg572Gln | |
| XM_011543954.1:c.1673G>A | XP_011542256.1:p.Arg558Gln | |
| XM_011543955.1:c.1649G>A | XP_011542257.1:p.Arg550Gln | |
| XM_011543956.1:c.1631G>A | XP_011542258.1:p.Arg544Gln | |
| XR_949047.1:n.216-653C>T | ||
| XM_011543954.2:c.1673G>A | XP_011542256.1:p.Arg558Gln | |
| XM_017029777.1:c.1784G>A | XP_016885266.1:p.Arg595Gln | |
| XM_017029778.2:c.1715G>A | XP_016885267.1:p.Arg572Gln | |
| XM_017029779.2:c.1649G>A | XP_016885268.1:p.Arg550Gln | |
| XM_017029780.1:c.1631G>A | XP_016885269.1:p.Arg544Gln | |
| XM_017029781.1:c.1631G>A | XP_016885270.1:p.Arg544Gln | |
| XR_949047.3:n.284-653C>T | ||
| NM_003334.4:c.1631G>A MANE Select | NP_003325.2:p.Arg544Gln | |
| NM_153280.3:c.1631G>A | NP_695012.1:p.Arg544Gln |