Linked Data
ClinVar Variation Id:
133523
ClinVar RCV Id:
RCV000120033
RCV000230402
RCV000677760
RCV000774673
RCV000586315
RCV003315716
RCV003997330
dbSNP Id:
rs587778037
gnomAD v2:
5-112179123-C-T
gnomAD v4:
5-112843426-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843426C>T , CM000667.2:g.112843426C>T | GRCh38 |
| NC_000005.9:g.112179123C>T , CM000667.1:g.112179123C>T | GRCh37 |
| NC_000005.8:g.112207022C>T | NCBI36 |
| NG_008481.4:g.155906C>T , LRG_130:g.155906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7886C>T | ENSP00000473355.2:p.Thr2629Ile | |
| ENST00000505350.2:c.*7838C>T | ENSP00000481752.1:n.*7838C>T | |
| ENST00000507379.6:c.7778C>T | ENSP00000423224.2:p.Thr2593Ile | |
| ENST00000509732.6:c.7832C>T | ENSP00000426541.2:p.Thr2611Ile | |
| ENST00000512211.7:c.7832C>T | ENSP00000423828.3:p.Thr2611Ile | |
| ENST00000257430.9:c.7832C>T MANE Select | ENSP00000257430.4:p.Thr2611Ile | |
| ENST00000257430.8:c.7832C>T | ENSP00000257430.4:p.Thr2611Ile | |
| ENST00000508376.6:c.7832C>T | ENSP00000427089.2:p.Thr2611Ile | |
| ENST00000520401.1:c.231-13223C>T | ||
| NM_000038.5:c.7832C>T | NP_000029.2:p.Thr2611Ile | |
| NM_001127510.2:c.7832C>T | NP_001120982.1:p.Thr2611Ile | |
| NM_001127511.2:c.7778C>T | NP_001120983.2:p.Thr2593Ile | |
| NM_001354895.1:c.7832C>T | NP_001341824.1:p.Thr2611Ile | |
| NM_001354896.1:c.7886C>T | NP_001341825.1:p.Thr2629Ile | |
| NM_001354897.1:c.7862C>T | NP_001341826.1:p.Thr2621Ile | |
| NM_001354898.1:c.7757C>T | NP_001341827.1:p.Thr2586Ile | |
| NM_001354899.1:c.7748C>T | NP_001341828.1:p.Thr2583Ile | |
| NM_001354900.1:c.7709C>T | NP_001341829.1:p.Thr2570Ile | |
| NM_001354901.1:c.7655C>T | NP_001341830.1:p.Thr2552Ile | |
| NM_001354902.1:c.7559C>T | NP_001341831.1:p.Thr2520Ile | |
| NM_001354903.1:c.7529C>T | NP_001341832.1:p.Thr2510Ile | |
| NM_001354904.1:c.7454C>T | NP_001341833.1:p.Thr2485Ile | |
| NM_001354905.1:c.7352C>T | NP_001341834.1:p.Thr2451Ile | |
| NM_001354906.1:c.6983C>T | NP_001341835.1:p.Thr2328Ile | |
| NM_000038.6:c.7832C>T MANE Select | NP_000029.2:p.Thr2611Ile | |
| NM_001127510.3:c.7832C>T | NP_001120982.1:p.Thr2611Ile | |
| NM_001127511.3:c.7778C>T | NP_001120983.2:p.Thr2593Ile | |
| NM_001354895.2:c.7832C>T | NP_001341824.1:p.Thr2611Ile | |
| NM_001354896.2:c.7886C>T | NP_001341825.1:p.Thr2629Ile | |
| NM_001354897.2:c.7862C>T | NP_001341826.1:p.Thr2621Ile | |
| NM_001354898.2:c.7757C>T | NP_001341827.1:p.Thr2586Ile | |
| NM_001354899.2:c.7748C>T | NP_001341828.1:p.Thr2583Ile | |
| NM_001354900.2:c.7709C>T | NP_001341829.1:p.Thr2570Ile | |
| NM_001354901.2:c.7655C>T | NP_001341830.1:p.Thr2552Ile | |
| NM_001354902.2:c.7559C>T | NP_001341831.1:p.Thr2520Ile | |
| NM_001354903.2:c.7529C>T | NP_001341832.1:p.Thr2510Ile | |
| NM_001354904.2:c.7454C>T | NP_001341833.1:p.Thr2485Ile | |
| NM_001354905.2:c.7352C>T | NP_001341834.1:p.Thr2451Ile | |
| NM_001354906.2:c.6983C>T | NP_001341835.1:p.Thr2328Ile |