Linked Data
ClinVar Variation Id:
474989
dbSNP Id:
rs150893861
ExAC:
2:197712747 A / G
gnomAD v2:
2-197712747-A-G
gnomAD v3:
2-196848023-A-G
gnomAD v4:
2-196848023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.196848023A>G , CM000664.2:g.196848023A>G | GRCh38 |
| NC_000002.11:g.197712747A>G , CM000664.1:g.197712747A>G | GRCh37 |
| NC_000002.10:g.197420992A>G | NCBI36 |
| NG_046780.1:g.83973T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354764.9:c.1876T>C MANE Select | ENSP00000346809.3:p.Tyr626His | |
| ENST00000354764.8:c.1876T>C | ENSP00000346809.3:p.Tyr626His | |
| ENST00000409475.5:c.*3T>C | ENSP00000387028.1:n.*3T>C | |
| ENST00000423035.5:c.*1807T>C | ENSP00000415405.1:n.*1807T>C | |
| ENST00000470179.5:n.1340T>C | ||
| NM_024989.3:c.1876T>C | NP_079265.2:p.Tyr626His | |
| XM_011511878.1:c.1876T>C | XP_011510180.1:p.Tyr626His | |
| XM_011511879.1:c.1354T>C | XP_011510181.1:p.Tyr452His | |
| XM_011511880.1:c.*3T>C | XP_011510182.1:n.*3T>C | |
| NM_001321099.1:c.1354T>C | NP_001308028.1:p.Tyr452His | |
| NM_001321100.1:c.709T>C | NP_001308029.1:p.Tyr237His | |
| XM_017004992.1:c.1354T>C | XP_016860481.1:p.Tyr452His | |
| XM_017004993.1:c.1354T>C | XP_016860482.1:p.Tyr452His | |
| XM_017004994.1:c.709T>C | XP_016860483.1:p.Tyr237His | |
| XM_024453156.1:c.709T>C | XP_024308924.1:p.Tyr237His | |
| XR_001738959.1:n.2161T>C | ||
| NM_024989.4:c.1876T>C MANE Select | NP_079265.2:p.Tyr626His | |
| NM_001321099.2:c.1354T>C | NP_001308028.1:p.Tyr452His | |
| NM_001321100.2:c.709T>C | NP_001308029.1:p.Tyr237His |