Linked Data
ClinVar Variation Id:
92348
ClinVar RCV Id:
RCV000159559
RCV000211922
RCV000393057
RCV000232274
RCV000590729
RCV000764566
RCV003534329
dbSNP Id:
rs201472075
ExAC:
5:112176654 G / A
gnomAD v2:
5-112176654-G-A
gnomAD v3:
5-112840957-G-A
gnomAD v4:
5-112840957-G-A
PubMed:
PMID:23561487
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840957G>A , CM000667.2:g.112840957G>A | GRCh38 |
| NC_000005.9:g.112176654G>A , CM000667.1:g.112176654G>A | GRCh37 |
| NC_000005.8:g.112204553G>A | NCBI36 |
| NG_008481.4:g.153437G>A , LRG_130:g.153437G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5417G>A | ENSP00000473355.2:p.Arg1806His | |
| ENST00000505350.2:c.*5369G>A | ENSP00000481752.1:n.*5369G>A | |
| ENST00000507379.6:c.5309G>A | ENSP00000423224.2:p.Arg1770His | |
| ENST00000509732.6:c.5363G>A | ENSP00000426541.2:p.Arg1788His | |
| ENST00000512211.7:c.5363G>A | ENSP00000423828.3:p.Arg1788His | |
| ENST00000257430.9:c.5363G>A MANE Select | ENSP00000257430.4:p.Arg1788His | |
| ENST00000257430.8:c.5363G>A | ENSP00000257430.4:p.Arg1788His | |
| ENST00000508376.6:c.5363G>A | ENSP00000427089.2:p.Arg1788His | |
| ENST00000508624.5:c.*4685G>A | ENSP00000424265.1:n.*4685G>A | |
| ENST00000520401.1:c.230+11985G>A | ||
| NM_000038.5:c.5363G>A | NP_000029.2:p.Arg1788His | |
| NM_001127510.2:c.5363G>A | NP_001120982.1:p.Arg1788His | |
| NM_001127511.2:c.5309G>A | NP_001120983.2:p.Arg1770His | |
| NM_001354895.1:c.5363G>A | NP_001341824.1:p.Arg1788His | |
| NM_001354896.1:c.5417G>A | NP_001341825.1:p.Arg1806His | |
| NM_001354897.1:c.5393G>A | NP_001341826.1:p.Arg1798His | |
| NM_001354898.1:c.5288G>A | NP_001341827.1:p.Arg1763His | |
| NM_001354899.1:c.5279G>A | NP_001341828.1:p.Arg1760His | |
| NM_001354900.1:c.5240G>A | NP_001341829.1:p.Arg1747His | |
| NM_001354901.1:c.5186G>A | NP_001341830.1:p.Arg1729His | |
| NM_001354902.1:c.5090G>A | NP_001341831.1:p.Arg1697His | |
| NM_001354903.1:c.5060G>A | NP_001341832.1:p.Arg1687His | |
| NM_001354904.1:c.4985G>A | NP_001341833.1:p.Arg1662His | |
| NM_001354905.1:c.4883G>A | NP_001341834.1:p.Arg1628His | |
| NM_001354906.1:c.4514G>A | NP_001341835.1:p.Arg1505His | |
| NM_000038.6:c.5363G>A MANE Select | NP_000029.2:p.Arg1788His | |
| NM_001127510.3:c.5363G>A | NP_001120982.1:p.Arg1788His | |
| NM_001127511.3:c.5309G>A | NP_001120983.2:p.Arg1770His | |
| NM_001354895.2:c.5363G>A | NP_001341824.1:p.Arg1788His | |
| NM_001354896.2:c.5417G>A | NP_001341825.1:p.Arg1806His | |
| NM_001354897.2:c.5393G>A | NP_001341826.1:p.Arg1798His | |
| NM_001354898.2:c.5288G>A | NP_001341827.1:p.Arg1763His | |
| NM_001354899.2:c.5279G>A | NP_001341828.1:p.Arg1760His | |
| NM_001354900.2:c.5240G>A | NP_001341829.1:p.Arg1747His | |
| NM_001354901.2:c.5186G>A | NP_001341830.1:p.Arg1729His | |
| NM_001354902.2:c.5090G>A | NP_001341831.1:p.Arg1697His | |
| NM_001354903.2:c.5060G>A | NP_001341832.1:p.Arg1687His | |
| NM_001354904.2:c.4985G>A | NP_001341833.1:p.Arg1662His | |
| NM_001354905.2:c.4883G>A | NP_001341834.1:p.Arg1628His | |
| NM_001354906.2:c.4514G>A | NP_001341835.1:p.Arg1505His |