Linked Data
ClinVar Variation Id:
470012
dbSNP Id:
rs1461006300
gnomAD v2:
5-112176818-C-A
gnomAD v4:
5-112841121-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841121C>A , CM000667.2:g.112841121C>A | GRCh38 |
| NC_000005.9:g.112176818C>A , CM000667.1:g.112176818C>A | GRCh37 |
| NC_000005.8:g.112204717C>A | NCBI36 |
| NG_008481.4:g.153601C>A , LRG_130:g.153601C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5581C>A | ENSP00000473355.2:p.Pro1861Thr | |
| ENST00000505350.2:c.*5533C>A | ENSP00000481752.1:n.*5533C>A | |
| ENST00000507379.6:c.5473C>A | ENSP00000423224.2:p.Pro1825Thr | |
| ENST00000509732.6:c.5527C>A | ENSP00000426541.2:p.Pro1843Thr | |
| ENST00000512211.7:c.5527C>A | ENSP00000423828.3:p.Pro1843Thr | |
| ENST00000257430.9:c.5527C>A MANE Select | ENSP00000257430.4:p.Pro1843Thr | |
| ENST00000257430.8:c.5527C>A | ENSP00000257430.4:p.Pro1843Thr | |
| ENST00000508376.6:c.5527C>A | ENSP00000427089.2:p.Pro1843Thr | |
| ENST00000508624.5:c.*4849C>A | ENSP00000424265.1:n.*4849C>A | |
| ENST00000520401.1:c.230+12149C>A | ||
| NM_000038.5:c.5527C>A | NP_000029.2:p.Pro1843Thr | |
| NM_001127510.2:c.5527C>A | NP_001120982.1:p.Pro1843Thr | |
| NM_001127511.2:c.5473C>A | NP_001120983.2:p.Pro1825Thr | |
| NM_001354895.1:c.5527C>A | NP_001341824.1:p.Pro1843Thr | |
| NM_001354896.1:c.5581C>A | NP_001341825.1:p.Pro1861Thr | |
| NM_001354897.1:c.5557C>A | NP_001341826.1:p.Pro1853Thr | |
| NM_001354898.1:c.5452C>A | NP_001341827.1:p.Pro1818Thr | |
| NM_001354899.1:c.5443C>A | NP_001341828.1:p.Pro1815Thr | |
| NM_001354900.1:c.5404C>A | NP_001341829.1:p.Pro1802Thr | |
| NM_001354901.1:c.5350C>A | NP_001341830.1:p.Pro1784Thr | |
| NM_001354902.1:c.5254C>A | NP_001341831.1:p.Pro1752Thr | |
| NM_001354903.1:c.5224C>A | NP_001341832.1:p.Pro1742Thr | |
| NM_001354904.1:c.5149C>A | NP_001341833.1:p.Pro1717Thr | |
| NM_001354905.1:c.5047C>A | NP_001341834.1:p.Pro1683Thr | |
| NM_001354906.1:c.4678C>A | NP_001341835.1:p.Pro1560Thr | |
| NM_000038.6:c.5527C>A MANE Select | NP_000029.2:p.Pro1843Thr | |
| NM_001127510.3:c.5527C>A | NP_001120982.1:p.Pro1843Thr | |
| NM_001127511.3:c.5473C>A | NP_001120983.2:p.Pro1825Thr | |
| NM_001354895.2:c.5527C>A | NP_001341824.1:p.Pro1843Thr | |
| NM_001354896.2:c.5581C>A | NP_001341825.1:p.Pro1861Thr | |
| NM_001354897.2:c.5557C>A | NP_001341826.1:p.Pro1853Thr | |
| NM_001354898.2:c.5452C>A | NP_001341827.1:p.Pro1818Thr | |
| NM_001354899.2:c.5443C>A | NP_001341828.1:p.Pro1815Thr | |
| NM_001354900.2:c.5404C>A | NP_001341829.1:p.Pro1802Thr | |
| NM_001354901.2:c.5350C>A | NP_001341830.1:p.Pro1784Thr | |
| NM_001354902.2:c.5254C>A | NP_001341831.1:p.Pro1752Thr | |
| NM_001354903.2:c.5224C>A | NP_001341832.1:p.Pro1742Thr | |
| NM_001354904.2:c.5149C>A | NP_001341833.1:p.Pro1717Thr | |
| NM_001354905.2:c.5047C>A | NP_001341834.1:p.Pro1683Thr | |
| NM_001354906.2:c.4678C>A | NP_001341835.1:p.Pro1560Thr |