Linked Data
ClinVar Variation Id:
1304973
ClinVar RCV Id:
RCV001765148
dbSNP Id:
rs1228319313
gnomAD v4:
11-108511590-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108511590G>C , CM000673.2:g.108511590G>C | GRCh38 |
| NC_000011.9:g.108382317G>C , CM000673.1:g.108382317G>C | GRCh37 |
| NC_000011.8:g.107887527G>C | NCBI36 |
| NG_042852.1:g.87149C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265843.9:c.3917C>G MANE Select | ENSP00000265843.4:p.Ser1306Ter | |
| ENST00000265843.8:c.3917C>G | ENSP00000265843.4:p.Ser1306Ter | |
| ENST00000525344.5:c.3896C>G | ENSP00000432546.1:p.Ser1299Ter | |
| ENST00000526312.5:c.3689C>G | ENSP00000432683.1:p.Ser1230Ter | |
| ENST00000533052.1:c.3353C>G | ENSP00000446434.1:p.Ser1118Ter | |
| NM_001144763.1:c.3689C>G | NP_001138235.1:p.Ser1230Ter | |
| NM_001144764.1:c.3449C>G | NP_001138236.1:p.Ser1150Ter | |
| NM_001144765.1:c.3353C>G | NP_001138237.1:p.Ser1118Ter | |
| NM_001308019.1:c.3896C>G | NP_001294948.1:p.Ser1299Ter | |
| NM_015065.2:c.3917C>G | NP_055880.2:p.Ser1306Ter | |
| XM_011542696.1:c.3689C>G | XP_011540998.1:p.Ser1230Ter | |
| XM_011542698.1:c.3689C>G | XP_011541000.1:p.Ser1230Ter | |
| XM_011542699.1:c.3353C>G | XP_011541001.1:p.Ser1118Ter | |
| XM_011542700.1:c.3689C>G | XP_011541002.1:p.Ser1230Ter | |
| XR_246464.2:n.590-3721G>C | ||
| XM_011542696.2:c.3689C>G | XP_011540998.1:p.Ser1230Ter | |
| XM_011542698.2:c.3689C>G | XP_011541000.1:p.Ser1230Ter | |
| XM_011542700.2:c.3689C>G | XP_011541002.1:p.Ser1230Ter | |
| XM_017017397.1:c.3689C>G | XP_016872886.1:p.Ser1230Ter | |
| XM_017017398.1:c.3686C>G | XP_016872887.1:p.Ser1229Ter | |
| XM_017017399.1:c.3689C>G | XP_016872888.1:p.Ser1230Ter | |
| XM_017017400.1:c.3689C>G | XP_016872889.1:p.Ser1230Ter | |
| XM_017017401.1:c.3686C>G | XP_016872890.1:p.Ser1229Ter | |
| XM_017017402.1:c.3449C>G | XP_016872891.1:p.Ser1150Ter | |
| XM_017017403.1:c.3446C>G | XP_016872892.1:p.Ser1149Ter | |
| XM_017017404.1:c.3353C>G | XP_016872893.1:p.Ser1118Ter | |
| NM_015065.3:c.3917C>G MANE Select | NP_055880.2:p.Ser1306Ter | |
| NM_001144763.2:c.3689C>G | NP_001138235.1:p.Ser1230Ter | |
| NM_001144764.2:c.3449C>G | NP_001138236.1:p.Ser1150Ter | |
| NM_001144765.2:c.3353C>G | NP_001138237.1:p.Ser1118Ter | |
| NM_001308019.2:c.3896C>G | NP_001294948.1:p.Ser1299Ter |