Linked Data
ClinVar Variation Id:
722451
ClinVar RCV Id:
RCV000896088
dbSNP Id:
rs138375821
ExAC:
1:8921419 T / C
gnomAD v2:
1-8921419-T-C
gnomAD v3:
1-8861360-T-C
gnomAD v4:
1-8861360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8861360T>C , CM000663.2:g.8861360T>C | GRCh38 |
| NC_000001.10:g.8921419T>C , CM000663.1:g.8921419T>C | GRCh37 |
| NC_000001.9:g.8844006T>C | NCBI36 |
| NG_029470.1:g.22733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234590.10:c.1305A>G MANE Select | ENSP00000234590.4:p.Ter435= | |
| ENST00000464920.2:n.2190A>G | ||
| ENST00000646370.2:c.*1058A>G | ENSP00000495568.1:n.*1058A>G | |
| ENST00000647408.1:c.1305A>G | ENSP00000495530.1:p.Ter435= | |
| ENST00000234590.8:c.1305A>G | ENSP00000234590.4:p.Ter435= | |
| ENST00000464920.1:n.1911A>G | ||
| NM_001201483.1:c.1026A>G | NP_001188412.1:p.Ter342= | |
| NM_001428.3:c.1305A>G | NP_001419.1:p.Ter435= | |
| XM_006710433.1:c.1305A>G | XP_006710496.1:p.Ter435= | |
| NM_001201483.3:c.1026A>G | NP_001188412.1:p.Ter342= | |
| NM_001353346.2:c.1305A>G | NP_001340275.1:p.Ter435= | |
| NM_001428.5:c.1305A>G MANE Select | NP_001419.1:p.Ter435= | |
| NM_001201483.4:c.1026A>G | NP_001188412.1:p.Ter342= | |
| NM_001353346.3:c.1305A>G | NP_001340275.1:p.Ter435= |