Linked Data
ClinVar Variation Id:
184078
dbSNP Id:
rs145751759
ExAC:
5:112173523 T / G
gnomAD v2:
5-112173523-T-G
gnomAD v3:
5-112837826-T-G
gnomAD v4:
5-112837826-T-G
PubMed:
PMID:23159591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837826T>G , CM000667.2:g.112837826T>G | GRCh38 |
| NC_000005.9:g.112173523T>G , CM000667.1:g.112173523T>G | GRCh37 |
| NC_000005.8:g.112201422T>G | NCBI36 |
| NG_008481.4:g.150306T>G , LRG_130:g.150306T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1897T>G | ENSP00000484935.2:n.1897T>G | |
| ENST00000504915.3:c.2286T>G | ENSP00000473355.2:p.Ser762= | |
| ENST00000505350.2:c.*2238T>G | ENSP00000481752.1:n.*2238T>G | |
| ENST00000507379.6:c.2178T>G | ENSP00000423224.2:p.Ser726= | |
| ENST00000509732.6:c.2232T>G | ENSP00000426541.2:p.Ser744= | |
| ENST00000512211.7:c.2232T>G | ENSP00000423828.3:p.Ser744= | |
| ENST00000257430.9:c.2232T>G MANE Select | ENSP00000257430.4:p.Ser744= | |
| ENST00000257430.8:c.2232T>G | ENSP00000257430.4:p.Ser744= | |
| ENST00000502371.2:c.585T>G | ||
| ENST00000507379.5:c.2178T>G | ENSP00000423224.1:p.Ser726= | |
| ENST00000508376.6:c.2232T>G | ENSP00000427089.2:p.Ser744= | |
| ENST00000508624.5:c.*1554T>G | ENSP00000424265.1:n.*1554T>G | |
| ENST00000512211.6:c.2232T>G | ENSP00000423828.2:p.Ser744= | |
| ENST00000520401.1:c.230+8854T>G | ||
| NM_000038.5:c.2232T>G | NP_000029.2:p.Ser744= | |
| NM_001127510.2:c.2232T>G | NP_001120982.1:p.Ser744= | |
| NM_001127511.2:c.2178T>G | NP_001120983.2:p.Ser726= | |
| NM_001354895.1:c.2232T>G | NP_001341824.1:p.Ser744= | |
| NM_001354896.1:c.2286T>G | NP_001341825.1:p.Ser762= | |
| NM_001354897.1:c.2262T>G | NP_001341826.1:p.Ser754= | |
| NM_001354898.1:c.2157T>G | NP_001341827.1:p.Ser719= | |
| NM_001354899.1:c.2148T>G | NP_001341828.1:p.Ser716= | |
| NM_001354900.1:c.2109T>G | NP_001341829.1:p.Ser703= | |
| NM_001354901.1:c.2055T>G | NP_001341830.1:p.Ser685= | |
| NM_001354902.1:c.1959T>G | NP_001341831.1:p.Ser653= | |
| NM_001354903.1:c.1929T>G | NP_001341832.1:p.Ser643= | |
| NM_001354904.1:c.1854T>G | NP_001341833.1:p.Ser618= | |
| NM_001354905.1:c.1752T>G | NP_001341834.1:p.Ser584= | |
| NM_001354906.1:c.1383T>G | NP_001341835.1:p.Ser461= | |
| NM_000038.6:c.2232T>G MANE Select | NP_000029.2:p.Ser744= | |
| NM_001127510.3:c.2232T>G | NP_001120982.1:p.Ser744= | |
| NM_001127511.3:c.2178T>G | NP_001120983.2:p.Ser726= | |
| NM_001354895.2:c.2232T>G | NP_001341824.1:p.Ser744= | |
| NM_001354896.2:c.2286T>G | NP_001341825.1:p.Ser762= | |
| NM_001354897.2:c.2262T>G | NP_001341826.1:p.Ser754= | |
| NM_001354898.2:c.2157T>G | NP_001341827.1:p.Ser719= | |
| NM_001354899.2:c.2148T>G | NP_001341828.1:p.Ser716= | |
| NM_001354900.2:c.2109T>G | NP_001341829.1:p.Ser703= | |
| NM_001354901.2:c.2055T>G | NP_001341830.1:p.Ser685= | |
| NM_001354902.2:c.1959T>G | NP_001341831.1:p.Ser653= | |
| NM_001354903.2:c.1929T>G | NP_001341832.1:p.Ser643= | |
| NM_001354904.2:c.1854T>G | NP_001341833.1:p.Ser618= | |
| NM_001354905.2:c.1752T>G | NP_001341834.1:p.Ser584= | |
| NM_001354906.2:c.1383T>G | NP_001341835.1:p.Ser461= |