Linked Data
ClinVar Variation Id:
141681
dbSNP Id:
rs376494248
ExAC:
5:112178073 C / T
gnomAD v2:
5-112178073-C-T
gnomAD v3:
5-112842376-C-T
gnomAD v4:
5-112842376-C-T
PubMed:
PMID:27978560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842376C>T , CM000667.2:g.112842376C>T | GRCh38 |
| NC_000005.9:g.112178073C>T , CM000667.1:g.112178073C>T | GRCh37 |
| NC_000005.8:g.112205972C>T | NCBI36 |
| NG_008481.4:g.154856C>T , LRG_130:g.154856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6836C>T | ENSP00000473355.2:p.Pro2279Leu | |
| ENST00000505350.2:c.*6788C>T | ENSP00000481752.1:n.*6788C>T | |
| ENST00000507379.6:c.6728C>T | ENSP00000423224.2:p.Pro2243Leu | |
| ENST00000509732.6:c.6782C>T | ENSP00000426541.2:p.Pro2261Leu | |
| ENST00000512211.7:c.6782C>T | ENSP00000423828.3:p.Pro2261Leu | |
| ENST00000257430.9:c.6782C>T MANE Select | ENSP00000257430.4:p.Pro2261Leu | |
| ENST00000257430.8:c.6782C>T | ENSP00000257430.4:p.Pro2261Leu | |
| ENST00000508376.6:c.6782C>T | ENSP00000427089.2:p.Pro2261Leu | |
| ENST00000508624.5:c.*6104C>T | ENSP00000424265.1:n.*6104C>T | |
| ENST00000520401.1:c.230+13404C>T | ||
| NM_000038.5:c.6782C>T | NP_000029.2:p.Pro2261Leu | |
| NM_001127510.2:c.6782C>T | NP_001120982.1:p.Pro2261Leu | |
| NM_001127511.2:c.6728C>T | NP_001120983.2:p.Pro2243Leu | |
| NM_001354895.1:c.6782C>T | NP_001341824.1:p.Pro2261Leu | |
| NM_001354896.1:c.6836C>T | NP_001341825.1:p.Pro2279Leu | |
| NM_001354897.1:c.6812C>T | NP_001341826.1:p.Pro2271Leu | |
| NM_001354898.1:c.6707C>T | NP_001341827.1:p.Pro2236Leu | |
| NM_001354899.1:c.6698C>T | NP_001341828.1:p.Pro2233Leu | |
| NM_001354900.1:c.6659C>T | NP_001341829.1:p.Pro2220Leu | |
| NM_001354901.1:c.6605C>T | NP_001341830.1:p.Pro2202Leu | |
| NM_001354902.1:c.6509C>T | NP_001341831.1:p.Pro2170Leu | |
| NM_001354903.1:c.6479C>T | NP_001341832.1:p.Pro2160Leu | |
| NM_001354904.1:c.6404C>T | NP_001341833.1:p.Pro2135Leu | |
| NM_001354905.1:c.6302C>T | NP_001341834.1:p.Pro2101Leu | |
| NM_001354906.1:c.5933C>T | NP_001341835.1:p.Pro1978Leu | |
| NM_000038.6:c.6782C>T MANE Select | NP_000029.2:p.Pro2261Leu | |
| NM_001127510.3:c.6782C>T | NP_001120982.1:p.Pro2261Leu | |
| NM_001127511.3:c.6728C>T | NP_001120983.2:p.Pro2243Leu | |
| NM_001354895.2:c.6782C>T | NP_001341824.1:p.Pro2261Leu | |
| NM_001354896.2:c.6836C>T | NP_001341825.1:p.Pro2279Leu | |
| NM_001354897.2:c.6812C>T | NP_001341826.1:p.Pro2271Leu | |
| NM_001354898.2:c.6707C>T | NP_001341827.1:p.Pro2236Leu | |
| NM_001354899.2:c.6698C>T | NP_001341828.1:p.Pro2233Leu | |
| NM_001354900.2:c.6659C>T | NP_001341829.1:p.Pro2220Leu | |
| NM_001354901.2:c.6605C>T | NP_001341830.1:p.Pro2202Leu | |
| NM_001354902.2:c.6509C>T | NP_001341831.1:p.Pro2170Leu | |
| NM_001354903.2:c.6479C>T | NP_001341832.1:p.Pro2160Leu | |
| NM_001354904.2:c.6404C>T | NP_001341833.1:p.Pro2135Leu | |
| NM_001354905.2:c.6302C>T | NP_001341834.1:p.Pro2101Leu | |
| NM_001354906.2:c.5933C>T | NP_001341835.1:p.Pro1978Leu |