Linked Data
ClinVar Variation Id:
2061327
ClinVar RCV Id:
RCV002942638
dbSNP Id:
rs558198190
ExAC:
14:77767435 A / G
gnomAD v2:
14-77767435-A-G
gnomAD v3:
14-77301092-A-G
gnomAD v4:
14-77301092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77301092A>G , CM000676.2:g.77301092A>G | GRCh38 |
| NC_000014.8:g.77767435A>G , CM000676.1:g.77767435A>G | GRCh37 |
| NC_000014.7:g.76837188A>G | NCBI36 |
| NG_008897.1:g.24791T>C , LRG_844:g.24791T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.267T>C | ENSP00000508202.1:n.267T>C | |
| ENST00000556394.2:c.358-1531T>C | ENSP00000451967.2:n.358-1531T>C | |
| ENST00000557289.2:c.158T>C | ||
| ENST00000682247.1:c.814T>C | ENSP00000507213.1:p.Leu272= | |
| ENST00000682382.1:c.496-2321T>C | ||
| ENST00000682395.1:n.543T>C | ||
| ENST00000682459.1:n.478T>C | ||
| ENST00000682467.1:c.814T>C | ENSP00000508062.1:p.Leu272= | |
| ENST00000682795.1:c.814T>C | ENSP00000507574.1:p.Leu272= | |
| ENST00000682895.1:n.530T>C | ||
| ENST00000682955.1:n.212-2321T>C | ||
| ENST00000683167.1:c.158T>C | ||
| ENST00000683188.1:c.343-1531T>C | ||
| ENST00000683300.1:c.109+3600T>C | ENSP00000507630.1:n.109+3600T>C | |
| ENST00000683328.1:c.109+3600T>C | ENSP00000508096.1:n.109+3600T>C | |
| ENST00000683380.1:n.478T>C | ||
| ENST00000683398.1:c.158T>C | ||
| ENST00000683551.1:c.109+1743T>C | ||
| ENST00000683828.1:c.526-1531T>C | ||
| ENST00000684259.1:n.665T>C | ||
| ENST00000684549.1:n.368-1531T>C | ||
| ENST00000684554.1:c.158T>C | ||
| ENST00000261534.9:c.814T>C MANE Select | ENSP00000261534.4:p.Leu272= | |
| ENST00000261534.8:c.814T>C | ENSP00000261534.4:p.Leu272= | |
| ENST00000452340.7:n.837T>C | ||
| ENST00000553863.5:n.478T>C | ||
| ENST00000554767.5:n.72T>C | ||
| ENST00000555675.5:n.530T>C | ||
| ENST00000556326.5:c.*480T>C | ENSP00000450630.1:n.*480T>C | |
| ENST00000557289.1:c.56-1531T>C | ENSP00000451115.1:n.56-1531T>C | |
| NM_013382.5:c.814T>C , LRG_844t1:c.814T>C | NP_037514.2:p.Leu272= | |
| XM_011536675.1:c.814T>C | XP_011534977.1:p.Leu272= | |
| XM_011536676.1:c.481T>C | XP_011534978.1:p.Leu161= | |
| XM_011536677.1:c.547+3600T>C | XP_011534979.1:n.547+3600T>C | |
| XM_011536678.1:c.814T>C | XP_011534980.1:p.Leu272= | |
| XM_011536679.1:c.-90-1531T>C | XP_011534981.1:n.-90-1531T>C | |
| XM_011536680.1:c.814T>C | XP_011534982.1:p.Leu272= | |
| XR_943416.1:n.1017T>C | ||
| XM_011536675.2:c.814T>C | XP_011534977.1:p.Leu272= | |
| XM_011536676.2:c.481T>C | XP_011534978.1:p.Leu161= | |
| XM_011536677.3:c.547+3600T>C | XP_011534979.1:n.547+3600T>C | |
| XR_001750279.1:n.1014T>C | ||
| XR_001750282.1:n.1018T>C | ||
| XR_943416.3:n.1015T>C | ||
| NM_013382.6:c.814T>C | NP_037514.2:p.Leu272= | |
| NM_013382.7:c.814T>C MANE Select | NP_037514.2:p.Leu272= |