Linked Data
ClinVar Variation Id:
313881
dbSNP Id:
rs764363798
ExAC:
14:68228950 T / C
gnomAD v2:
14-68228950-T-C
gnomAD v4:
14-67762233-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67762233T>C , CM000676.2:g.67762233T>C | GRCh38 |
| NC_000014.8:g.68228950T>C , CM000676.1:g.68228950T>C | GRCh37 |
| NC_000014.7:g.67298703T>C | NCBI36 |
| NG_011836.1:g.59357A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.6339A>G MANE Select | ENSP00000251119.5:p.Leu2113= | |
| ENST00000676512.1:c.6357A>G | ENSP00000504552.1:p.Leu2119= | |
| ENST00000676620.1:c.6261A>G | ENSP00000504587.1:p.Leu2087= | |
| ENST00000678386.1:c.6384A>G | ENSP00000503677.1:p.Leu2128= | |
| ENST00000347230.8:c.6339A>G | ENSP00000251119.5:p.Leu2113= | |
| ENST00000394455.6:n.1602A>G | ||
| ENST00000554523.5:n.6476A>G | ||
| ENST00000554557.5:c.*4317A>G | ENSP00000450431.1:n.*4317A>G | |
| ENST00000555452.1:c.6339A>G | ENSP00000450603.1:p.Leu2113= | |
| NM_015346.3:c.6339A>G | NP_056161.2:p.Leu2113= | |
| XM_006720093.2:c.6339A>G | XP_006720156.1:p.Leu2113= | |
| XM_011536606.1:c.4830A>G | XP_011534908.1:p.Leu1610= | |
| XM_011536607.1:c.4014A>G | XP_011534909.1:p.Leu1338= | |
| XM_011536608.1:c.3921A>G | XP_011534910.1:p.Leu1307= | |
| XM_017021124.1:c.6357A>G | XP_016876613.1:p.Leu2119= | |
| XM_017021125.1:c.6357A>G | XP_016876614.1:p.Leu2119= | |
| XM_017021126.1:c.4848A>G | XP_016876615.1:p.Leu1616= | |
| XM_017021127.2:c.4032A>G | XP_016876616.1:p.Leu1344= | |
| XM_017021128.1:c.3939A>G | XP_016876617.1:p.Leu1313= | |
| NM_015346.4:c.6339A>G MANE Select | NP_056161.2:p.Leu2113= |