Linked Data
ClinVar Variation Id:
289455
ClinVar RCV Id:
RCV000341865
RCV000860654
RCV001118235
RCV001848068
RCV002518084
RCV003930170
RCV004546476
dbSNP Id:
rs148552744
ExAC:
14:68249605 C / T
gnomAD v2:
14-68249605-C-T
gnomAD v3:
14-67782888-C-T
gnomAD v4:
14-67782888-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67782888C>T , CM000676.2:g.67782888C>T | GRCh38 |
| NC_000014.8:g.68249605C>T , CM000676.1:g.68249605C>T | GRCh37 |
| NC_000014.7:g.67319358C>T | NCBI36 |
| NG_011836.1:g.38702G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4264G>A MANE Select | ENSP00000251119.5:p.Val1422Met | |
| ENST00000676512.1:c.4264G>A | ENSP00000504552.1:p.Val1422Met | |
| ENST00000676620.1:c.4264G>A | ENSP00000504587.1:p.Val1422Met | |
| ENST00000678386.1:c.4264G>A | ENSP00000503677.1:p.Val1422Met | |
| ENST00000347230.8:c.4264G>A | ENSP00000251119.5:p.Val1422Met | |
| ENST00000554523.5:n.4401G>A | ||
| ENST00000554557.5:c.*2350+211G>A | ENSP00000450431.1:n.*2350+211G>A | |
| ENST00000555452.1:c.4264G>A | ENSP00000450603.1:p.Val1422Met | |
| NM_015346.3:c.4264G>A | NP_056161.2:p.Val1422Met | |
| XM_006720093.2:c.4264G>A | XP_006720156.1:p.Val1422Met | |
| XM_011536606.1:c.2755G>A | XP_011534908.1:p.Val919Met | |
| XM_011536607.1:c.1939G>A | XP_011534909.1:p.Val647Met | |
| XM_011536608.1:c.1846G>A | XP_011534910.1:p.Val616Met | |
| XM_011536609.1:c.4264G>A | XP_011534911.1:p.Val1422Met | |
| XM_011536609.2:c.4264G>A | XP_011534911.1:p.Val1422Met | |
| XM_017021124.1:c.4264G>A | XP_016876613.1:p.Val1422Met | |
| XM_017021125.1:c.4264G>A | XP_016876614.1:p.Val1422Met | |
| XM_017021126.1:c.2755G>A | XP_016876615.1:p.Val919Met | |
| XM_017021127.2:c.1939G>A | XP_016876616.1:p.Val647Met | |
| XM_017021128.1:c.1846G>A | XP_016876617.1:p.Val616Met | |
| NM_015346.4:c.4264G>A MANE Select | NP_056161.2:p.Val1422Met |