Linked Data
ClinVar Variation Id:
299448
ClinVar RCV Id:
RCV000319951
dbSNP Id:
rs886046872
gnomAD v2:
10-16975249-T-C
gnomAD v4:
10-16933250-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16933250T>C , CM000672.2:g.16933250T>C | GRCh38 |
| NC_000010.10:g.16975249T>C , CM000672.1:g.16975249T>C | GRCh37 |
| NC_000010.9:g.17015255T>C | NCBI36 |
| NG_008967.1:g.201568A>G , LRG_540:g.201568A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.5961A>G MANE Select | ENSP00000367064.4:p.Ala1987= | |
| ENST00000377833.8:c.5961A>G | ENSP00000367064.4:p.Ala1987= | |
| NM_001081.3:c.5961A>G , LRG_540t1:c.5961A>G | NP_001072.2:p.Ala1987= | |
| XM_011519708.1:c.5961A>G | XP_011518010.1:p.Ala1987= | |
| XM_011519709.1:c.1947A>G | XP_011518011.1:p.Ala649= | |
| XM_011519710.1:c.1923A>G | XP_011518012.1:p.Ala641= | |
| XM_011519711.1:c.1803A>G | XP_011518013.1:p.Ala601= | |
| XM_011519708.2:c.5961A>G | XP_011518010.1:p.Ala1987= | |
| XM_011519709.2:c.1947A>G | XP_011518011.1:p.Ala649= | |
| XM_011519710.2:c.1923A>G | XP_011518012.1:p.Ala641= | |
| XM_011519711.3:c.1803A>G | XP_011518013.1:p.Ala601= | |
| NM_001081.4:c.5961A>G MANE Select | NP_001072.2:p.Ala1987= |