Linked Data
ClinVar Variation Id:
1064238
ClinVar RCV Id:
RCV001374185
dbSNP Id:
rs1684870740
gnomAD v4:
2-174571994-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174571994C>G , CM000664.2:g.174571994C>G | GRCh38 |
| NC_000002.11:g.175436722C>G , CM000664.1:g.175436722C>G | GRCh37 |
| NC_000002.10:g.175144968C>G | NCBI36 |
| NG_032009.1:g.115906G>C , LRG_374:g.115906G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436221.2:c.811G>C | ENSP00000388454.2:p.Val271Leu | |
| ENST00000698666.1:n.816G>C | ||
| ENST00000698667.1:c.811G>C | ENSP00000513868.1:p.Val271Leu | |
| ENST00000698668.1:c.811G>C | ENSP00000513869.1:p.Val271Leu | |
| ENST00000698701.1:c.811G>C | ENSP00000513882.1:p.Val271Leu | |
| ENST00000679041.1:c.811G>C MANE Select | ENSP00000503603.1:p.Val271Leu | |
| ENST00000272746.9:c.811G>C | ENSP00000272746.5:p.Val271Leu | |
| ENST00000359761.7:c.811G>C | ENSP00000352802.3:p.Val271Leu | |
| ENST00000392546.6:c.811G>C | ENSP00000376329.2:p.Val271Leu | |
| ENST00000392547.6:c.811G>C | ENSP00000376330.2:p.Val271Leu | |
| ENST00000409415.7:c.811G>C | ENSP00000387150.3:p.Val271Leu | |
| ENST00000409891.5:c.811G>C | ENSP00000386431.1:p.Val271Leu | |
| ENST00000610916.4:c.811G>C | ENSP00000479992.1:p.Val271Leu | |
| NM_001077269.1:c.811G>C , LRG_374t1:c.811G>C | NP_001070737.1:p.Val271Leu | |
| NM_003387.4:c.811G>C | NP_003378.3:p.Val271Leu | |
| XM_011511780.1:c.811G>C | XP_011510082.1:p.Val271Leu | |
| XM_011511781.1:c.811G>C | XP_011510083.1:p.Val271Leu | |
| XM_011511780.3:c.811G>C | XP_011510082.1:p.Val271Leu | |
| NM_001375832.1:c.811G>C | NP_001362761.1:p.Val271Leu | |
| NM_001375833.1:c.811G>C | NP_001362762.1:p.Val271Leu | |
| NM_001375834.1:c.811G>C MANE Select | NP_001362763.1:p.Val271Leu | |
| NM_001375835.1:c.811G>C | NP_001362764.1:p.Val271Leu | |
| NM_001375836.1:c.811G>C | NP_001362765.1:p.Val271Leu | |
| NM_001375837.1:c.811G>C | NP_001362766.1:p.Val271Leu | |
| NM_001375838.1:c.811G>C | NP_001362767.1:p.Val271Leu | |
| NM_001375839.1:c.433G>C | NP_001362768.1:p.Val145Leu | |
| NM_003387.5:c.811G>C | NP_003378.3:p.Val271Leu |