Linked Data
ClinVar Variation Id:
312809
ClinVar RCV Id:
RCV000278758
dbSNP Id:
rs765682604
ExAC:
14:23242861 A / G
gnomAD v2:
14-23242861-A-G
gnomAD v4:
14-22773652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22773652A>G , CM000676.2:g.22773652A>G | GRCh38 |
| NC_000014.8:g.23242861A>G , CM000676.1:g.23242861A>G | GRCh37 |
| NC_000014.7:g.22312701A>G | NCBI36 |
| NG_012851.2:g.61169T>C , LRG_695:g.61169T>C | |
| NG_051068.1:g.12131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.1494T>C | ENSP00000452551.2:p.Asp498= | |
| ENST00000698939.1:c.*560T>C | ENSP00000514047.1:n.*560T>C | |
| ENST00000397532.9:c.1494T>C | ENSP00000380666.4:p.Asp498= | |
| ENST00000674313.1:c.1494T>C MANE Select | ENSP00000501493.1:p.Asp498= | |
| ENST00000285850.11:c.1494T>C | ENSP00000285850.7:p.Asp498= | |
| ENST00000397528.8:c.1494T>C | ENSP00000380662.4:p.Asp498= | |
| ENST00000397529.6:c.1494T>C | ENSP00000380663.2:p.Asp498= | |
| ENST00000397532.7:c.1494T>C | ENSP00000380666.3:p.Asp498= | |
| ENST00000554061.5:n.1165T>C | ||
| ENST00000554517.5:c.696T>C | ENSP00000452083.1:p.Asp232= | |
| ENST00000555678.1:n.755T>C | ||
| ENST00000555702.5:c.1494T>C | ENSP00000451881.1:p.Asp498= | |
| ENST00000556287.5:c.*457T>C | ENSP00000450715.1:n.*457T>C | |
| ENST00000556350.1:c.488T>C | ||
| NM_001126105.2:c.1494T>C , LRG_695t1:c.1494T>C | NP_001119577.1:p.Asp498= | |
| NM_001126106.2:c.1494T>C , LRG_695t2:c.1494T>C | NP_001119578.1:p.Asp498= | |
| NR_040448.1:n.2109T>C | ||
| XM_006720302.1:c.1494T>C | XP_006720365.1:p.Asp498= | |
| XM_011537298.1:c.1494T>C | XP_011535600.1:p.Asp498= | |
| XM_011537299.1:c.1494T>C | XP_011535601.1:p.Asp498= | |
| XM_006720302.2:c.1494T>C | XP_006720365.1:p.Asp498= | |
| XM_011537298.3:c.1494T>C | XP_011535600.1:p.Asp498= | |
| NM_001126105.3:c.1494T>C | NP_001119577.1:p.Asp498= | |
| NM_001126106.4:c.1494T>C | NP_001119578.1:p.Asp498= | |
| NM_003982.4:c.1494T>C MANE Select | NP_003973.3:p.Asp498= |