Linked Data
ClinVar Variation Id:
181816
dbSNP Id:
rs730881257
ExAC:
5:112178465 C / A
gnomAD v2:
5-112178465-C-A
gnomAD v3:
5-112842768-C-A
gnomAD v4:
5-112842768-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842768C>A , CM000667.2:g.112842768C>A | GRCh38 |
| NC_000005.9:g.112178465C>A , CM000667.1:g.112178465C>A | GRCh37 |
| NC_000005.8:g.112206364C>A | NCBI36 |
| NG_008481.4:g.155248C>A , LRG_130:g.155248C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7228C>A | ENSP00000473355.2:p.Pro2410Thr | |
| ENST00000505350.2:c.*7180C>A | ENSP00000481752.1:n.*7180C>A | |
| ENST00000507379.6:c.7120C>A | ENSP00000423224.2:p.Pro2374Thr | |
| ENST00000509732.6:c.7174C>A | ENSP00000426541.2:p.Pro2392Thr | |
| ENST00000512211.7:c.7174C>A | ENSP00000423828.3:p.Pro2392Thr | |
| ENST00000257430.9:c.7174C>A MANE Select | ENSP00000257430.4:p.Pro2392Thr | |
| ENST00000257430.8:c.7174C>A | ENSP00000257430.4:p.Pro2392Thr | |
| ENST00000508376.6:c.7174C>A | ENSP00000427089.2:p.Pro2392Thr | |
| ENST00000520401.1:c.230+13796C>A | ||
| NM_000038.5:c.7174C>A | NP_000029.2:p.Pro2392Thr | |
| NM_001127510.2:c.7174C>A | NP_001120982.1:p.Pro2392Thr | |
| NM_001127511.2:c.7120C>A | NP_001120983.2:p.Pro2374Thr | |
| NM_001354895.1:c.7174C>A | NP_001341824.1:p.Pro2392Thr | |
| NM_001354896.1:c.7228C>A | NP_001341825.1:p.Pro2410Thr | |
| NM_001354897.1:c.7204C>A | NP_001341826.1:p.Pro2402Thr | |
| NM_001354898.1:c.7099C>A | NP_001341827.1:p.Pro2367Thr | |
| NM_001354899.1:c.7090C>A | NP_001341828.1:p.Pro2364Thr | |
| NM_001354900.1:c.7051C>A | NP_001341829.1:p.Pro2351Thr | |
| NM_001354901.1:c.6997C>A | NP_001341830.1:p.Pro2333Thr | |
| NM_001354902.1:c.6901C>A | NP_001341831.1:p.Pro2301Thr | |
| NM_001354903.1:c.6871C>A | NP_001341832.1:p.Pro2291Thr | |
| NM_001354904.1:c.6796C>A | NP_001341833.1:p.Pro2266Thr | |
| NM_001354905.1:c.6694C>A | NP_001341834.1:p.Pro2232Thr | |
| NM_001354906.1:c.6325C>A | NP_001341835.1:p.Pro2109Thr | |
| NM_000038.6:c.7174C>A MANE Select | NP_000029.2:p.Pro2392Thr | |
| NM_001127510.3:c.7174C>A | NP_001120982.1:p.Pro2392Thr | |
| NM_001127511.3:c.7120C>A | NP_001120983.2:p.Pro2374Thr | |
| NM_001354895.2:c.7174C>A | NP_001341824.1:p.Pro2392Thr | |
| NM_001354896.2:c.7228C>A | NP_001341825.1:p.Pro2410Thr | |
| NM_001354897.2:c.7204C>A | NP_001341826.1:p.Pro2402Thr | |
| NM_001354898.2:c.7099C>A | NP_001341827.1:p.Pro2367Thr | |
| NM_001354899.2:c.7090C>A | NP_001341828.1:p.Pro2364Thr | |
| NM_001354900.2:c.7051C>A | NP_001341829.1:p.Pro2351Thr | |
| NM_001354901.2:c.6997C>A | NP_001341830.1:p.Pro2333Thr | |
| NM_001354902.2:c.6901C>A | NP_001341831.1:p.Pro2301Thr | |
| NM_001354903.2:c.6871C>A | NP_001341832.1:p.Pro2291Thr | |
| NM_001354904.2:c.6796C>A | NP_001341833.1:p.Pro2266Thr | |
| NM_001354905.2:c.6694C>A | NP_001341834.1:p.Pro2232Thr | |
| NM_001354906.2:c.6325C>A | NP_001341835.1:p.Pro2109Thr |