Linked Data
ClinVar Variation Id:
127306
ClinVar RCV Id:
RCV000115104
RCV000202997
RCV000148372
RCV000572635
RCV000679068
RCV003315229
RCV003650372
dbSNP Id:
rs368080169
ExAC:
5:112176819 C / T
gnomAD v2:
5-112176819-C-T
gnomAD v3:
5-112841122-C-T
gnomAD v4:
5-112841122-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841122C>T , CM000667.2:g.112841122C>T | GRCh38 |
| NC_000005.9:g.112176819C>T , CM000667.1:g.112176819C>T | GRCh37 |
| NC_000005.8:g.112204718C>T | NCBI36 |
| NG_008481.4:g.153602C>T , LRG_130:g.153602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5582C>T | ENSP00000473355.2:p.Pro1861Leu | |
| ENST00000505350.2:c.*5534C>T | ENSP00000481752.1:n.*5534C>T | |
| ENST00000507379.6:c.5474C>T | ENSP00000423224.2:p.Pro1825Leu | |
| ENST00000509732.6:c.5528C>T | ENSP00000426541.2:p.Pro1843Leu | |
| ENST00000512211.7:c.5528C>T | ENSP00000423828.3:p.Pro1843Leu | |
| ENST00000257430.9:c.5528C>T MANE Select | ENSP00000257430.4:p.Pro1843Leu | |
| ENST00000257430.8:c.5528C>T | ENSP00000257430.4:p.Pro1843Leu | |
| ENST00000508376.6:c.5528C>T | ENSP00000427089.2:p.Pro1843Leu | |
| ENST00000508624.5:c.*4850C>T | ENSP00000424265.1:n.*4850C>T | |
| ENST00000520401.1:c.230+12150C>T | ||
| NM_000038.5:c.5528C>T | NP_000029.2:p.Pro1843Leu | |
| NM_001127510.2:c.5528C>T | NP_001120982.1:p.Pro1843Leu | |
| NM_001127511.2:c.5474C>T | NP_001120983.2:p.Pro1825Leu | |
| NM_001354895.1:c.5528C>T | NP_001341824.1:p.Pro1843Leu | |
| NM_001354896.1:c.5582C>T | NP_001341825.1:p.Pro1861Leu | |
| NM_001354897.1:c.5558C>T | NP_001341826.1:p.Pro1853Leu | |
| NM_001354898.1:c.5453C>T | NP_001341827.1:p.Pro1818Leu | |
| NM_001354899.1:c.5444C>T | NP_001341828.1:p.Pro1815Leu | |
| NM_001354900.1:c.5405C>T | NP_001341829.1:p.Pro1802Leu | |
| NM_001354901.1:c.5351C>T | NP_001341830.1:p.Pro1784Leu | |
| NM_001354902.1:c.5255C>T | NP_001341831.1:p.Pro1752Leu | |
| NM_001354903.1:c.5225C>T | NP_001341832.1:p.Pro1742Leu | |
| NM_001354904.1:c.5150C>T | NP_001341833.1:p.Pro1717Leu | |
| NM_001354905.1:c.5048C>T | NP_001341834.1:p.Pro1683Leu | |
| NM_001354906.1:c.4679C>T | NP_001341835.1:p.Pro1560Leu | |
| NM_000038.6:c.5528C>T MANE Select | NP_000029.2:p.Pro1843Leu | |
| NM_001127510.3:c.5528C>T | NP_001120982.1:p.Pro1843Leu | |
| NM_001127511.3:c.5474C>T | NP_001120983.2:p.Pro1825Leu | |
| NM_001354895.2:c.5528C>T | NP_001341824.1:p.Pro1843Leu | |
| NM_001354896.2:c.5582C>T | NP_001341825.1:p.Pro1861Leu | |
| NM_001354897.2:c.5558C>T | NP_001341826.1:p.Pro1853Leu | |
| NM_001354898.2:c.5453C>T | NP_001341827.1:p.Pro1818Leu | |
| NM_001354899.2:c.5444C>T | NP_001341828.1:p.Pro1815Leu | |
| NM_001354900.2:c.5405C>T | NP_001341829.1:p.Pro1802Leu | |
| NM_001354901.2:c.5351C>T | NP_001341830.1:p.Pro1784Leu | |
| NM_001354902.2:c.5255C>T | NP_001341831.1:p.Pro1752Leu | |
| NM_001354903.2:c.5225C>T | NP_001341832.1:p.Pro1742Leu | |
| NM_001354904.2:c.5150C>T | NP_001341833.1:p.Pro1717Leu | |
| NM_001354905.2:c.5048C>T | NP_001341834.1:p.Pro1683Leu | |
| NM_001354906.2:c.4679C>T | NP_001341835.1:p.Pro1560Leu |