Linked Data
ClinVar Variation Id:
2580904
ClinVar RCV Id:
RCV003330138
dbSNP Id:
rs1301613270
gnomAD v2:
9-133364812-C-G
gnomAD v4:
9-130489425-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489425C>G , CM000671.2:g.130489425C>G | GRCh38 |
| NC_000009.11:g.133364812C>G , CM000671.1:g.133364812C>G | GRCh37 |
| NC_000009.10:g.132354633C>G | NCBI36 |
| NG_011542.1:g.49719C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.931C>G MANE Select | ENSP00000253004.6:p.Gln311Glu | |
| ENST00000352480.9:c.931C>G | ENSP00000253004.6:p.Gln311Glu | |
| ENST00000372386.6:n.202C>G | ||
| ENST00000372393.7:c.931C>G | ENSP00000361469.2:p.Gln311Glu | |
| ENST00000372394.5:c.931C>G | ENSP00000361471.1:p.Gln311Glu | |
| ENST00000492400.5:n.440C>G | ||
| NM_000050.4:c.931C>G | NP_000041.2:p.Gln311Glu | |
| NM_054012.3:c.931C>G | NP_446464.1:p.Gln311Glu | |
| XM_005272200.2:c.931C>G | XP_005272257.1:p.Gln311Glu | |
| XM_011518705.1:c.1045C>G | XP_011517007.1:p.Gln349Glu | |
| XM_005272200.3:c.931C>G | XP_005272257.1:p.Gln311Glu | |
| XM_011518705.2:c.1045C>G | XP_011517007.1:p.Gln349Glu | |
| XM_017014729.1:c.1027C>G | XP_016870218.1:p.Gln343Glu | |
| NM_054012.4:c.931C>G MANE Select | NP_446464.1:p.Gln311Glu |