Linked Data
ClinVar Variation Id:
241060
dbSNP Id:
rs147494935
ExAC:
14:68215240 G / A
gnomAD v2:
14-68215240-G-A
gnomAD v3:
14-67748523-G-A
gnomAD v4:
14-67748523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67748523G>A , CM000676.2:g.67748523G>A | GRCh38 |
| NC_000014.8:g.68215240G>A , CM000676.1:g.68215240G>A | GRCh37 |
| NC_000014.7:g.67284993G>A | NCBI36 |
| NG_011836.1:g.73067C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7533C>T MANE Select | ENSP00000251119.5:p.Ser2511= | |
| ENST00000676512.1:c.7551C>T | ENSP00000504552.1:p.Ser2517= | |
| ENST00000676620.1:c.7455C>T | ENSP00000504587.1:p.Ser2485= | |
| ENST00000678386.1:c.7578C>T | ENSP00000503677.1:p.Ser2526= | |
| ENST00000347230.8:c.7533C>T | ENSP00000251119.5:p.Ser2511= | |
| ENST00000394455.6:n.2679+2529C>T | ||
| ENST00000554523.5:n.8288C>T | ||
| ENST00000554557.5:c.*5511C>T | ENSP00000450431.1:n.*5511C>T | |
| NM_015346.3:c.7533C>T | NP_056161.2:p.Ser2511= | |
| XM_006720093.2:c.7416+2529C>T | XP_006720156.1:n.7416+2529C>T | |
| XM_011536606.1:c.6024C>T | XP_011534908.1:p.Ser2008= | |
| XM_011536607.1:c.5208C>T | XP_011534909.1:p.Ser1736= | |
| XM_011536608.1:c.5115C>T | XP_011534910.1:p.Ser1705= | |
| XM_017021124.1:c.7551C>T | XP_016876613.1:p.Ser2517= | |
| XM_017021125.1:c.7434+2529C>T | XP_016876614.1:n.7434+2529C>T | |
| XM_017021126.1:c.6042C>T | XP_016876615.1:p.Ser2014= | |
| XM_017021127.2:c.5226C>T | XP_016876616.1:p.Ser1742= | |
| XM_017021128.1:c.5133C>T | XP_016876617.1:p.Ser1711= | |
| NM_015346.4:c.7533C>T MANE Select | NP_056161.2:p.Ser2511= |