Linked Data
ClinVar Variation Id:
469983
dbSNP Id:
rs748715887
ExAC:
5:112176219 G / T
gnomAD v2:
5-112176219-G-T
gnomAD v4:
5-112840522-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840522G>T , CM000667.2:g.112840522G>T | GRCh38 |
| NC_000005.9:g.112176219G>T , CM000667.1:g.112176219G>T | GRCh37 |
| NC_000005.8:g.112204118G>T | NCBI36 |
| NG_008481.4:g.153002G>T , LRG_130:g.153002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4982G>T | ENSP00000473355.2:p.Cys1661Phe | |
| ENST00000505350.2:c.*4934G>T | ENSP00000481752.1:n.*4934G>T | |
| ENST00000507379.6:c.4874G>T | ENSP00000423224.2:p.Cys1625Phe | |
| ENST00000509732.6:c.4928G>T | ENSP00000426541.2:p.Cys1643Phe | |
| ENST00000512211.7:c.4928G>T | ENSP00000423828.3:p.Cys1643Phe | |
| ENST00000257430.9:c.4928G>T MANE Select | ENSP00000257430.4:p.Cys1643Phe | |
| ENST00000257430.8:c.4928G>T | ENSP00000257430.4:p.Cys1643Phe | |
| ENST00000508376.6:c.4928G>T | ENSP00000427089.2:p.Cys1643Phe | |
| ENST00000508624.5:c.*4250G>T | ENSP00000424265.1:n.*4250G>T | |
| ENST00000520401.1:c.230+11550G>T | ||
| NM_000038.5:c.4928G>T | NP_000029.2:p.Cys1643Phe | |
| NM_001127510.2:c.4928G>T | NP_001120982.1:p.Cys1643Phe | |
| NM_001127511.2:c.4874G>T | NP_001120983.2:p.Cys1625Phe | |
| NM_001354895.1:c.4928G>T | NP_001341824.1:p.Cys1643Phe | |
| NM_001354896.1:c.4982G>T | NP_001341825.1:p.Cys1661Phe | |
| NM_001354897.1:c.4958G>T | NP_001341826.1:p.Cys1653Phe | |
| NM_001354898.1:c.4853G>T | NP_001341827.1:p.Cys1618Phe | |
| NM_001354899.1:c.4844G>T | NP_001341828.1:p.Cys1615Phe | |
| NM_001354900.1:c.4805G>T | NP_001341829.1:p.Cys1602Phe | |
| NM_001354901.1:c.4751G>T | NP_001341830.1:p.Cys1584Phe | |
| NM_001354902.1:c.4655G>T | NP_001341831.1:p.Cys1552Phe | |
| NM_001354903.1:c.4625G>T | NP_001341832.1:p.Cys1542Phe | |
| NM_001354904.1:c.4550G>T | NP_001341833.1:p.Cys1517Phe | |
| NM_001354905.1:c.4448G>T | NP_001341834.1:p.Cys1483Phe | |
| NM_001354906.1:c.4079G>T | NP_001341835.1:p.Cys1360Phe | |
| NM_000038.6:c.4928G>T MANE Select | NP_000029.2:p.Cys1643Phe | |
| NM_001127510.3:c.4928G>T | NP_001120982.1:p.Cys1643Phe | |
| NM_001127511.3:c.4874G>T | NP_001120983.2:p.Cys1625Phe | |
| NM_001354895.2:c.4928G>T | NP_001341824.1:p.Cys1643Phe | |
| NM_001354896.2:c.4982G>T | NP_001341825.1:p.Cys1661Phe | |
| NM_001354897.2:c.4958G>T | NP_001341826.1:p.Cys1653Phe | |
| NM_001354898.2:c.4853G>T | NP_001341827.1:p.Cys1618Phe | |
| NM_001354899.2:c.4844G>T | NP_001341828.1:p.Cys1615Phe | |
| NM_001354900.2:c.4805G>T | NP_001341829.1:p.Cys1602Phe | |
| NM_001354901.2:c.4751G>T | NP_001341830.1:p.Cys1584Phe | |
| NM_001354902.2:c.4655G>T | NP_001341831.1:p.Cys1552Phe | |
| NM_001354903.2:c.4625G>T | NP_001341832.1:p.Cys1542Phe | |
| NM_001354904.2:c.4550G>T | NP_001341833.1:p.Cys1517Phe | |
| NM_001354905.2:c.4448G>T | NP_001341834.1:p.Cys1483Phe | |
| NM_001354906.2:c.4079G>T | NP_001341835.1:p.Cys1360Phe |