Linked Data
ClinVar Variation Id:
330768
dbSNP Id:
rs200363872
ExAC:
2:112777052 G / C
gnomAD v2:
2-112777052-G-C
gnomAD v3:
2-112019475-G-C
gnomAD v4:
2-112019475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112019475G>C , CM000664.2:g.112019475G>C | GRCh38 |
| NC_000002.11:g.112777052G>C , CM000664.1:g.112777052G>C | GRCh37 |
| NC_000002.10:g.112493523G>C | NCBI36 |
| NG_011607.1:g.125862G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2142G>C MANE Select | ENSP00000295408.4:p.Leu714= | |
| ENST00000295408.8:c.2142G>C | ENSP00000295408.4:p.Leu714= | |
| ENST00000409780.5:c.1614G>C | ENSP00000387277.1:p.Leu538= | |
| ENST00000421804.6:c.2142G>C | ENSP00000389152.2:p.Leu714= | |
| ENST00000439966.5:c.*1615G>C | ENSP00000402129.1:n.*1615G>C | |
| ENST00000449344.2:c.63G>C | ENSP00000412660.2:p.Leu21= | |
| ENST00000616902.4:c.1098G>C | ENSP00000482824.1:p.Leu366= | |
| NM_006343.2:c.2142G>C | NP_006334.2:p.Leu714= | |
| XM_005263565.3:c.2142G>C | XP_005263622.1:p.Leu714= | |
| XM_005263568.3:c.2142G>C | XP_005263625.1:p.Leu714= | |
| XM_011510490.1:c.1953G>C | XP_011508792.1:p.Leu651= | |
| XM_011510491.1:c.927G>C | XP_011508793.1:p.Leu309= | |
| XM_005263565.4:c.2142G>C | XP_005263622.1:p.Leu714= | |
| XM_005263568.4:c.2142G>C | XP_005263625.1:p.Leu714= | |
| XM_011510490.3:c.1953G>C | XP_011508792.1:p.Leu651= | |
| XM_017003164.1:c.1953G>C | XP_016858653.1:p.Leu651= | |
| XM_017003165.2:c.927G>C | XP_016858654.1:p.Leu309= | |
| NM_006343.3:c.2142G>C MANE Select | NP_006334.2:p.Leu714= |