Linked Data
ClinVar Variation Id:
2098302
ClinVar RCV Id:
RCV003019156
gnomAD v4:
8-31173096-T-C
MyVariant Identifiers:
chr8:g.31030612T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31173096T>C , CM000670.2:g.31173096T>C | GRCh38 |
| NC_000008.10:g.31030612T>C , CM000670.1:g.31030612T>C | GRCh37 |
| NC_000008.9:g.31150154T>C | NCBI36 |
| NG_008870.1:g.144835T>C , LRG_524:g.144835T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4293T>C MANE Select | ENSP00000298139.5:p.Phe1431= | |
| ENST00000650667.1:c.*3907T>C | ENSP00000498593.1:n.*3907T>C | |
| ENST00000651946.1:n.517T>C | ||
| ENST00000298139.5:c.4293T>C | ENSP00000298139.5:p.Phe1431= | |
| ENST00000521620.5:n.2926T>C | ||
| NM_000553.4:c.4293T>C , LRG_524t1:c.4293T>C | NP_000544.2:p.Phe1431= | |
| XM_011544639.1:c.4212T>C | XP_011542941.1:p.Phe1404= | |
| XM_011544640.1:c.2694T>C | XP_011542942.1:p.Phe898= | |
| XR_949643.1:n.88-1778A>G | ||
| XR_949644.1:n.88-1778A>G | ||
| XR_949645.1:n.88-1778A>G | ||
| XR_949646.1:n.88-1778A>G | ||
| XR_949647.1:n.701-1778A>G | ||
| XR_949648.1:n.603-1778A>G | ||
| NM_000553.5:c.4293T>C | NP_000544.2:p.Phe1431= | |
| XM_011544639.3:c.4212T>C | XP_011542941.1:p.Phe1404= | |
| XM_024447265.1:c.4083T>C | XP_024303033.1:p.Phe1361= | |
| NM_000553.6:c.4293T>C MANE Select | NP_000544.2:p.Phe1431= |