Linked Data
ClinVar Variation Id:
2359100
ClinVar RCV Id:
RCV002974614
dbSNP Id:
rs200849891
ExAC:
5:68716134 G / C
gnomAD v2:
5-68716134-G-C
gnomAD v3:
5-69420307-G-C
gnomAD v4:
5-69420307-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.69420307G>C , CM000667.2:g.69420307G>C | GRCh38 |
| NC_000005.9:g.68716134G>C , CM000667.1:g.68716134G>C | GRCh37 |
| NC_000005.8:g.68751890G>C | NCBI36 |
| NG_017201.1:g.10196G>C | |
| NG_017201.2:g.10196G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325631.10:c.922G>C MANE Select | ENSP00000323264.5:p.Ala308Pro | |
| ENST00000413223.3:c.726-152G>C | ENSP00000398922.2:n.726-152G>C | |
| ENST00000436532.7:c.726-152G>C | ENSP00000414776.2:n.726-152G>C | |
| ENST00000645446.1:c.922G>C | ENSP00000494616.1:p.Ala308Pro | |
| ENST00000647531.1:c.922G>C | ENSP00000493858.1:p.Ala308Pro | |
| ENST00000325631.9:c.922G>C | ENSP00000323264.5:p.Ala308Pro | |
| ENST00000413223.2:c.726-152G>C | ENSP00000398922.2:n.726-152G>C | |
| ENST00000436532.6:c.726-152G>C | ENSP00000414776.2:n.726-152G>C | |
| ENST00000454295.6:c.922G>C | ENSP00000396244.2:p.Ala308Pro | |
| ENST00000512803.5:c.922G>C | ENSP00000423490.1:p.Ala308Pro | |
| NM_001038603.2:c.922G>C | NP_001033692.2:p.Ala308Pro | |
| NM_001244734.1:c.922G>C | NP_001231663.1:p.Ala308Pro | |
| XM_005248445.3:c.922G>C | XP_005248502.1:p.Ala308Pro | |
| XM_005248446.3:c.922G>C | XP_005248503.1:p.Ala308Pro | |
| XM_005248447.3:c.922G>C | XP_005248504.1:p.Ala308Pro | |
| XM_005248445.4:c.922G>C | XP_005248502.1:p.Ala308Pro | |
| XM_005248446.4:c.922G>C | XP_005248503.1:p.Ala308Pro | |
| XM_005248447.4:c.922G>C | XP_005248504.1:p.Ala308Pro | |
| NM_001038603.3:c.922G>C MANE Select | NP_001033692.2:p.Ala308Pro | |
| NM_001244734.2:c.922G>C | NP_001231663.1:p.Ala308Pro |