Linked Data
ClinVar Variation Id:
299467
dbSNP Id:
rs149164899
ExAC:
10:16989291 A / C
gnomAD v2:
10-16989291-A-C
gnomAD v3:
10-16947292-A-C
gnomAD v4:
10-16947292-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16947292A>C , CM000672.2:g.16947292A>C | GRCh38 |
| NC_000010.10:g.16989291A>C , CM000672.1:g.16989291A>C | GRCh37 |
| NC_000010.9:g.17029297A>C | NCBI36 |
| NG_008967.1:g.187526T>G , LRG_540:g.187526T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.5285T>G MANE Select | ENSP00000367064.4:p.Val1762Gly | |
| ENST00000377833.8:c.5285T>G | ENSP00000367064.4:p.Val1762Gly | |
| NM_001081.3:c.5285T>G , LRG_540t1:c.5285T>G | NP_001072.2:p.Val1762Gly | |
| XM_011519708.1:c.5285T>G | XP_011518010.1:p.Val1762Gly | |
| XM_011519709.1:c.1271T>G | XP_011518011.1:p.Val424Gly | |
| XM_011519710.1:c.1247T>G | XP_011518012.1:p.Val416Gly | |
| XM_011519711.1:c.1127T>G | XP_011518013.1:p.Val376Gly | |
| XM_011519708.2:c.5285T>G | XP_011518010.1:p.Val1762Gly | |
| XM_011519709.2:c.1271T>G | XP_011518011.1:p.Val424Gly | |
| XM_011519710.2:c.1247T>G | XP_011518012.1:p.Val416Gly | |
| XM_011519711.3:c.1127T>G | XP_011518013.1:p.Val376Gly | |
| NM_001081.4:c.5285T>G MANE Select | NP_001072.2:p.Val1762Gly |