Linked Data
ClinVar Variation Id:
299429
ClinVar RCV Id:
RCV000361461
dbSNP Id:
rs376122892
ExAC:
10:16957961 A / G
gnomAD v2:
10-16957961-A-G
gnomAD v3:
10-16915962-A-G
gnomAD v4:
10-16915962-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16915962A>G , CM000672.2:g.16915962A>G | GRCh38 |
| NC_000010.10:g.16957961A>G , CM000672.1:g.16957961A>G | GRCh37 |
| NC_000010.9:g.16997967A>G | NCBI36 |
| NG_008967.1:g.218856T>C , LRG_540:g.218856T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.7069T>C MANE Select | ENSP00000367064.4:p.Tyr2357His | |
| ENST00000377833.8:c.7069T>C | ENSP00000367064.4:p.Tyr2357His | |
| NM_001081.3:c.7069T>C , LRG_540t1:c.7069T>C | NP_001072.2:p.Tyr2357His | |
| XM_011519708.1:c.7069T>C | XP_011518010.1:p.Tyr2357His | |
| XM_011519709.1:c.3055T>C | XP_011518011.1:p.Tyr1019His | |
| XM_011519710.1:c.3031T>C | XP_011518012.1:p.Tyr1011His | |
| XM_011519711.1:c.2911T>C | XP_011518013.1:p.Tyr971His | |
| XM_011519708.2:c.7069T>C | XP_011518010.1:p.Tyr2357His | |
| XM_011519709.2:c.3055T>C | XP_011518011.1:p.Tyr1019His | |
| XM_011519710.2:c.3031T>C | XP_011518012.1:p.Tyr1011His | |
| XM_011519711.3:c.2911T>C | XP_011518013.1:p.Tyr971His | |
| NM_001081.4:c.7069T>C MANE Select | NP_001072.2:p.Tyr2357His |