Linked Data
ClinVar Variation Id:
482515
dbSNP Id:
rs771591963
ExAC:
5:112179509 C / T
gnomAD v4:
5-112843812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843812C>T , CM000667.2:g.112843812C>T | GRCh38 |
| NC_000005.9:g.112179509C>T , CM000667.1:g.112179509C>T | GRCh37 |
| NC_000005.8:g.112207408C>T | NCBI36 |
| NG_008481.4:g.156292C>T , LRG_130:g.156292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8272C>T | ENSP00000473355.2:p.Pro2758Ser | |
| ENST00000505350.2:c.*8224C>T | ENSP00000481752.1:n.*8224C>T | |
| ENST00000507379.6:c.8164C>T | ENSP00000423224.2:p.Pro2722Ser | |
| ENST00000509732.6:c.8218C>T | ENSP00000426541.2:p.Pro2740Ser | |
| ENST00000512211.7:c.8218C>T | ENSP00000423828.3:p.Pro2740Ser | |
| ENST00000257430.9:c.8218C>T MANE Select | ENSP00000257430.4:p.Pro2740Ser | |
| ENST00000257430.8:c.8218C>T | ENSP00000257430.4:p.Pro2740Ser | |
| ENST00000508376.6:c.8218C>T | ENSP00000427089.2:p.Pro2740Ser | |
| ENST00000520401.1:c.231-12837C>T | ||
| NM_000038.5:c.8218C>T | NP_000029.2:p.Pro2740Ser | |
| NM_001127510.2:c.8218C>T | NP_001120982.1:p.Pro2740Ser | |
| NM_001127511.2:c.8164C>T | NP_001120983.2:p.Pro2722Ser | |
| NM_001354895.1:c.8218C>T | NP_001341824.1:p.Pro2740Ser | |
| NM_001354896.1:c.8272C>T | NP_001341825.1:p.Pro2758Ser | |
| NM_001354897.1:c.8248C>T | NP_001341826.1:p.Pro2750Ser | |
| NM_001354898.1:c.8143C>T | NP_001341827.1:p.Pro2715Ser | |
| NM_001354899.1:c.8134C>T | NP_001341828.1:p.Pro2712Ser | |
| NM_001354900.1:c.8095C>T | NP_001341829.1:p.Pro2699Ser | |
| NM_001354901.1:c.8041C>T | NP_001341830.1:p.Pro2681Ser | |
| NM_001354902.1:c.7945C>T | NP_001341831.1:p.Pro2649Ser | |
| NM_001354903.1:c.7915C>T | NP_001341832.1:p.Pro2639Ser | |
| NM_001354904.1:c.7840C>T | NP_001341833.1:p.Pro2614Ser | |
| NM_001354905.1:c.7738C>T | NP_001341834.1:p.Pro2580Ser | |
| NM_001354906.1:c.7369C>T | NP_001341835.1:p.Pro2457Ser | |
| NM_000038.6:c.8218C>T MANE Select | NP_000029.2:p.Pro2740Ser | |
| NM_001127510.3:c.8218C>T | NP_001120982.1:p.Pro2740Ser | |
| NM_001127511.3:c.8164C>T | NP_001120983.2:p.Pro2722Ser | |
| NM_001354895.2:c.8218C>T | NP_001341824.1:p.Pro2740Ser | |
| NM_001354896.2:c.8272C>T | NP_001341825.1:p.Pro2758Ser | |
| NM_001354897.2:c.8248C>T | NP_001341826.1:p.Pro2750Ser | |
| NM_001354898.2:c.8143C>T | NP_001341827.1:p.Pro2715Ser | |
| NM_001354899.2:c.8134C>T | NP_001341828.1:p.Pro2712Ser | |
| NM_001354900.2:c.8095C>T | NP_001341829.1:p.Pro2699Ser | |
| NM_001354901.2:c.8041C>T | NP_001341830.1:p.Pro2681Ser | |
| NM_001354902.2:c.7945C>T | NP_001341831.1:p.Pro2649Ser | |
| NM_001354903.2:c.7915C>T | NP_001341832.1:p.Pro2639Ser | |
| NM_001354904.2:c.7840C>T | NP_001341833.1:p.Pro2614Ser | |
| NM_001354905.2:c.7738C>T | NP_001341834.1:p.Pro2580Ser | |
| NM_001354906.2:c.7369C>T | NP_001341835.1:p.Pro2457Ser |