Linked Data
ClinVar Variation Id:
246186
dbSNP Id:
rs146631014
ExAC:
10:64574206 C / G
gnomAD v2:
10-64574206-C-G
gnomAD v3:
10-62814446-C-G
gnomAD v4:
10-62814446-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62814446C>G , CM000672.2:g.62814446C>G | GRCh38 |
| NC_000010.10:g.64574206C>G , CM000672.1:g.64574206C>G | GRCh37 |
| NC_000010.9:g.64244212C>G | NCBI36 |
| NG_008936.2:g.110455G>C , LRG_239:g.110455G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.42G>C | ENSP00000387634.1:p.Met14Ile | |
| ENST00000439032.6:c.732G>C | ENSP00000509775.1:n.732G>C | |
| ENST00000637191.2:c.192G>C | ENSP00000490154.2:p.Met64Ile | |
| ENST00000690143.1:c.*124G>C | ENSP00000510306.1:n.*124G>C | |
| ENST00000691610.1:c.231G>C | ENSP00000509830.1:p.Met77Ile | |
| ENST00000242480.4:c.192G>C MANE Select | ENSP00000242480.3:p.Met64Ile | |
| ENST00000411732.3:c.42G>C | ENSP00000387634.1:p.Met14Ile | |
| ENST00000637191.1:c.192G>C | ENSP00000490154.1:p.Met64Ile | |
| ENST00000639815.1:n.109-1484G>C | ||
| ENST00000242480.3:c.192G>C | ENSP00000242480.3:p.Met64Ile | |
| ENST00000411732.2:c.42G>C | ENSP00000387634.1:p.Met14Ile | |
| ENST00000439032.4:c.192G>C | ENSP00000402040.1:p.Met64Ile | |
| ENST00000493899.2:n.673G>C | ||
| NM_000399.3:c.192G>C , LRG_239t1:c.192G>C | NP_000390.2:p.Met64Ile | |
| NM_001136177.1:c.192G>C | NP_001129649.1:p.Met64Ile | |
| NM_001136178.1:c.192G>C | NP_001129650.1:p.Met64Ile | |
| NM_001136179.1:c.42G>C | NP_001129651.1:p.Met14Ile | |
| XM_011539427.1:c.231G>C | XP_011537729.1:p.Met77Ile | |
| XM_011539428.1:c.42G>C | XP_011537730.1:p.Met14Ile | |
| XM_011539429.1:c.42G>C | XP_011537731.1:p.Met14Ile | |
| NM_000399.4:c.192G>C | NP_000390.2:p.Met64Ile | |
| NM_001136177.2:c.192G>C | NP_001129649.1:p.Met64Ile | |
| NM_001136179.2:c.42G>C | NP_001129651.1:p.Met14Ile | |
| NM_001321037.1:c.42G>C | NP_001307966.1:p.Met14Ile | |
| NM_000399.5:c.192G>C MANE Select | NP_000390.2:p.Met64Ile | |
| NM_001136177.3:c.192G>C | NP_001129649.1:p.Met64Ile | |
| NM_001136179.3:c.42G>C | NP_001129651.1:p.Met14Ile | |
| NM_001321037.2:c.42G>C | NP_001307966.1:p.Met14Ile | |
| NM_001136178.2:c.192G>C | NP_001129650.1:p.Met64Ile |