Linked Data
ClinVar Variation Id:
313932
dbSNP Id:
rs199674363
ExAC:
14:68280727 C / A
gnomAD v2:
14-68280727-C-A
gnomAD v3:
14-67814010-C-A
gnomAD v4:
14-67814010-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67814010C>A , CM000676.2:g.67814010C>A | GRCh38 |
| NC_000014.8:g.68280727C>A , CM000676.1:g.68280727C>A | GRCh37 |
| NC_000014.7:g.67350480C>A | NCBI36 |
| NG_011836.1:g.7580G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.249G>T MANE Select | ENSP00000251119.5:p.Leu83= | |
| ENST00000676512.1:c.249G>T | ENSP00000504552.1:p.Leu83= | |
| ENST00000676620.1:c.249G>T | ENSP00000504587.1:p.Leu83= | |
| ENST00000677026.1:c.249G>T | ENSP00000503710.1:p.Leu83= | |
| ENST00000678382.1:c.249G>T | ENSP00000504130.1:p.Leu83= | |
| ENST00000678386.1:c.249G>T | ENSP00000503677.1:p.Leu83= | |
| ENST00000347230.8:c.249G>T | ENSP00000251119.5:p.Leu83= | |
| ENST00000554523.5:n.386G>T | ||
| ENST00000554557.5:c.249G>T | ENSP00000450431.1:p.Leu83= | |
| ENST00000555452.1:c.249G>T | ENSP00000450603.1:p.Leu83= | |
| ENST00000557366.5:n.384G>T | ||
| ENST00000557407.1:n.384G>T | ||
| NM_015346.3:c.249G>T | NP_056161.2:p.Leu83= | |
| XM_006720093.2:c.249G>T | XP_006720156.1:p.Leu83= | |
| XM_011536606.1:c.-1172G>T | XP_011534908.1:n.-1172G>T | |
| XM_011536609.1:c.249G>T | XP_011534911.1:p.Leu83= | |
| XM_011536609.2:c.249G>T | XP_011534911.1:p.Leu83= | |
| XM_017021124.1:c.249G>T | XP_016876613.1:p.Leu83= | |
| XM_017021125.1:c.249G>T | XP_016876614.1:p.Leu83= | |
| XM_017021126.1:c.-1172G>T | XP_016876615.1:n.-1172G>T | |
| NM_015346.4:c.249G>T MANE Select | NP_056161.2:p.Leu83= |