Linked Data
ClinVar Variation Id:
41508
dbSNP Id:
rs199775075
ExAC:
5:112176516 G / A
gnomAD v2:
5-112176516-G-A
gnomAD v3:
5-112840819-G-A
gnomAD v4:
5-112840819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840819G>A , CM000667.2:g.112840819G>A | GRCh38 |
| NC_000005.9:g.112176516G>A , CM000667.1:g.112176516G>A | GRCh37 |
| NC_000005.8:g.112204415G>A | NCBI36 |
| NG_008481.4:g.153299G>A , LRG_130:g.153299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5279G>A | ENSP00000473355.2:p.Arg1760His | |
| ENST00000505350.2:c.*5231G>A | ENSP00000481752.1:n.*5231G>A | |
| ENST00000507379.6:c.5171G>A | ENSP00000423224.2:p.Arg1724His | |
| ENST00000509732.6:c.5225G>A | ENSP00000426541.2:p.Arg1742His | |
| ENST00000512211.7:c.5225G>A | ENSP00000423828.3:p.Arg1742His | |
| ENST00000257430.9:c.5225G>A MANE Select | ENSP00000257430.4:p.Arg1742His | |
| ENST00000257430.8:c.5225G>A | ENSP00000257430.4:p.Arg1742His | |
| ENST00000508376.6:c.5225G>A | ENSP00000427089.2:p.Arg1742His | |
| ENST00000508624.5:c.*4547G>A | ENSP00000424265.1:n.*4547G>A | |
| ENST00000520401.1:c.230+11847G>A | ||
| NM_000038.5:c.5225G>A | NP_000029.2:p.Arg1742His | |
| NM_001127510.2:c.5225G>A | NP_001120982.1:p.Arg1742His | |
| NM_001127511.2:c.5171G>A | NP_001120983.2:p.Arg1724His | |
| NM_001354895.1:c.5225G>A | NP_001341824.1:p.Arg1742His | |
| NM_001354896.1:c.5279G>A | NP_001341825.1:p.Arg1760His | |
| NM_001354897.1:c.5255G>A | NP_001341826.1:p.Arg1752His | |
| NM_001354898.1:c.5150G>A | NP_001341827.1:p.Arg1717His | |
| NM_001354899.1:c.5141G>A | NP_001341828.1:p.Arg1714His | |
| NM_001354900.1:c.5102G>A | NP_001341829.1:p.Arg1701His | |
| NM_001354901.1:c.5048G>A | NP_001341830.1:p.Arg1683His | |
| NM_001354902.1:c.4952G>A | NP_001341831.1:p.Arg1651His | |
| NM_001354903.1:c.4922G>A | NP_001341832.1:p.Arg1641His | |
| NM_001354904.1:c.4847G>A | NP_001341833.1:p.Arg1616His | |
| NM_001354905.1:c.4745G>A | NP_001341834.1:p.Arg1582His | |
| NM_001354906.1:c.4376G>A | NP_001341835.1:p.Arg1459His | |
| NM_000038.6:c.5225G>A MANE Select | NP_000029.2:p.Arg1742His | |
| NM_001127510.3:c.5225G>A | NP_001120982.1:p.Arg1742His | |
| NM_001127511.3:c.5171G>A | NP_001120983.2:p.Arg1724His | |
| NM_001354895.2:c.5225G>A | NP_001341824.1:p.Arg1742His | |
| NM_001354896.2:c.5279G>A | NP_001341825.1:p.Arg1760His | |
| NM_001354897.2:c.5255G>A | NP_001341826.1:p.Arg1752His | |
| NM_001354898.2:c.5150G>A | NP_001341827.1:p.Arg1717His | |
| NM_001354899.2:c.5141G>A | NP_001341828.1:p.Arg1714His | |
| NM_001354900.2:c.5102G>A | NP_001341829.1:p.Arg1701His | |
| NM_001354901.2:c.5048G>A | NP_001341830.1:p.Arg1683His | |
| NM_001354902.2:c.4952G>A | NP_001341831.1:p.Arg1651His | |
| NM_001354903.2:c.4922G>A | NP_001341832.1:p.Arg1641His | |
| NM_001354904.2:c.4847G>A | NP_001341833.1:p.Arg1616His | |
| NM_001354905.2:c.4745G>A | NP_001341834.1:p.Arg1582His | |
| NM_001354906.2:c.4376G>A | NP_001341835.1:p.Arg1459His |