Linked Data
ClinVar Variation Id:
500872
dbSNP Id:
rs147321202
ExAC:
14:68219115 G / A
gnomAD v2:
14-68219115-G-A
gnomAD v3:
14-67752398-G-A
gnomAD v4:
14-67752398-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67752398G>A , CM000676.2:g.67752398G>A | GRCh38 |
| NC_000014.8:g.68219115G>A , CM000676.1:g.68219115G>A | GRCh37 |
| NC_000014.7:g.67288868G>A | NCBI36 |
| NG_011836.1:g.69192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7317C>T MANE Select | ENSP00000251119.5:p.Asp2439= | |
| ENST00000676512.1:c.7335C>T | ENSP00000504552.1:p.Asp2445= | |
| ENST00000676620.1:c.7239C>T | ENSP00000504587.1:p.Asp2413= | |
| ENST00000678386.1:c.7362C>T | ENSP00000503677.1:p.Asp2454= | |
| ENST00000347230.8:c.7317C>T | ENSP00000251119.5:p.Asp2439= | |
| ENST00000394455.6:n.2580C>T | ||
| ENST00000554523.5:n.8072C>T | ||
| ENST00000554557.5:c.*5295C>T | ENSP00000450431.1:n.*5295C>T | |
| ENST00000557306.1:c.855C>T | ENSP00000452142.1:p.Asp285= | |
| NM_015346.3:c.7317C>T | NP_056161.2:p.Asp2439= | |
| XM_006720093.2:c.7317C>T | XP_006720156.1:p.Asp2439= | |
| XM_011536606.1:c.5808C>T | XP_011534908.1:p.Asp1936= | |
| XM_011536607.1:c.4992C>T | XP_011534909.1:p.Asp1664= | |
| XM_011536608.1:c.4899C>T | XP_011534910.1:p.Asp1633= | |
| XM_017021124.1:c.7335C>T | XP_016876613.1:p.Asp2445= | |
| XM_017021125.1:c.7335C>T | XP_016876614.1:p.Asp2445= | |
| XM_017021126.1:c.5826C>T | XP_016876615.1:p.Asp1942= | |
| XM_017021127.2:c.5010C>T | XP_016876616.1:p.Asp1670= | |
| XM_017021128.1:c.4917C>T | XP_016876617.1:p.Asp1639= | |
| NM_015346.4:c.7317C>T MANE Select | NP_056161.2:p.Asp2439= |