Linked Data
ClinVar Variation Id:
313893
dbSNP Id:
rs200969714
ExAC:
14:68244264 G / A
gnomAD v2:
14-68244264-G-A
gnomAD v3:
14-67777547-G-A
gnomAD v4:
14-67777547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67777547G>A , CM000676.2:g.67777547G>A | GRCh38 |
| NC_000014.8:g.68244264G>A , CM000676.1:g.68244264G>A | GRCh37 |
| NC_000014.7:g.67314017G>A | NCBI36 |
| NG_011836.1:g.44043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4974+12C>T MANE Select | ENSP00000251119.5:n.4974+12C>T | |
| ENST00000676512.1:c.4974+12C>T | ENSP00000504552.1:n.4974+12C>T | |
| ENST00000676620.1:c.4974+12C>T | ENSP00000504587.1:n.4974+12C>T | |
| ENST00000678386.1:c.4986C>T | ENSP00000503677.1:p.His1662= | |
| ENST00000347230.8:c.4974+12C>T | ENSP00000251119.5:n.4974+12C>T | |
| ENST00000554523.5:n.5111+12C>T | ||
| ENST00000554557.5:c.*2952+12C>T | ENSP00000450431.1:n.*2952+12C>T | |
| ENST00000555452.1:c.4974+12C>T | ENSP00000450603.1:n.4974+12C>T | |
| NM_015346.3:c.4974+12C>T | NP_056161.2:n.4974+12C>T | |
| XM_006720093.2:c.4974+12C>T | XP_006720156.1:n.4974+12C>T | |
| XM_011536606.1:c.3465+12C>T | XP_011534908.1:n.3465+12C>T | |
| XM_011536607.1:c.2649+12C>T | XP_011534909.1:n.2649+12C>T | |
| XM_011536608.1:c.2556+12C>T | XP_011534910.1:n.2556+12C>T | |
| XM_011536609.1:c.4974+12C>T | XP_011534911.1:n.4974+12C>T | |
| XM_011536609.2:c.4974+12C>T | XP_011534911.1:n.4974+12C>T | |
| XM_017021124.1:c.4974+12C>T | XP_016876613.1:n.4974+12C>T | |
| XM_017021125.1:c.4974+12C>T | XP_016876614.1:n.4974+12C>T | |
| XM_017021126.1:c.3465+12C>T | XP_016876615.1:n.3465+12C>T | |
| XM_017021127.2:c.2649+12C>T | XP_016876616.1:n.2649+12C>T | |
| XM_017021128.1:c.2556+12C>T | XP_016876617.1:n.2556+12C>T | |
| NM_015346.4:c.4974+12C>T MANE Select | NP_056161.2:n.4974+12C>T |