Linked Data
ClinVar Variation Id:
528015
dbSNP Id:
rs372463199
ExAC:
14:68221965 G / A
gnomAD v2:
14-68221965-G-A
gnomAD v3:
14-67755248-G-A
gnomAD v4:
14-67755248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67755248G>A , CM000676.2:g.67755248G>A | GRCh38 |
| NC_000014.8:g.68221965G>A , CM000676.1:g.68221965G>A | GRCh37 |
| NC_000014.7:g.67291718G>A | NCBI36 |
| NG_011836.1:g.66342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6789C>T MANE Select | ENSP00000251119.5:p.Asp2263= | |
| ENST00000676512.1:c.6807C>T | ENSP00000504552.1:p.Asp2269= | |
| ENST00000676620.1:c.6711C>T | ENSP00000504587.1:p.Asp2237= | |
| ENST00000678386.1:c.6834C>T | ENSP00000503677.1:p.Asp2278= | |
| ENST00000347230.8:c.6789C>T | ENSP00000251119.5:p.Asp2263= | |
| ENST00000394455.6:n.2052C>T | ||
| ENST00000554523.5:n.7544C>T | ||
| ENST00000554557.5:c.*4767C>T | ENSP00000450431.1:n.*4767C>T | |
| ENST00000554783.1:n.477C>T | ||
| ENST00000557306.1:c.327C>T | ENSP00000452142.1:p.Asp109= | |
| NM_015346.3:c.6789C>T | NP_056161.2:p.Asp2263= | |
| XM_006720093.2:c.6789C>T | XP_006720156.1:p.Asp2263= | |
| XM_011536606.1:c.5280C>T | XP_011534908.1:p.Asp1760= | |
| XM_011536607.1:c.4464C>T | XP_011534909.1:p.Asp1488= | |
| XM_011536608.1:c.4371C>T | XP_011534910.1:p.Asp1457= | |
| XM_017021124.1:c.6807C>T | XP_016876613.1:p.Asp2269= | |
| XM_017021125.1:c.6807C>T | XP_016876614.1:p.Asp2269= | |
| XM_017021126.1:c.5298C>T | XP_016876615.1:p.Asp1766= | |
| XM_017021127.2:c.4482C>T | XP_016876616.1:p.Asp1494= | |
| XM_017021128.1:c.4389C>T | XP_016876617.1:p.Asp1463= | |
| NM_015346.4:c.6789C>T MANE Select | NP_056161.2:p.Asp2263= |