Linked Data
ClinVar Variation Id:
184668
ClinVar RCV Id:
RCV000163958
RCV000200153
RCV000859105
RCV001174930
RCV003534435
RCV003954966
RCV003995300
dbSNP Id:
rs2229997
ExAC:
5:112176541 C / T
gnomAD v2:
5-112176541-C-T
gnomAD v3:
5-112840844-C-T
gnomAD v4:
5-112840844-C-T
COSMIC:
COSM6475353
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840844C>T , CM000667.2:g.112840844C>T | GRCh38 |
| NC_000005.9:g.112176541C>T , CM000667.1:g.112176541C>T | GRCh37 |
| NC_000005.8:g.112204440C>T | NCBI36 |
| NG_008481.4:g.153324C>T , LRG_130:g.153324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5304C>T | ENSP00000473355.2:p.Val1768= | |
| ENST00000505350.2:c.*5256C>T | ENSP00000481752.1:n.*5256C>T | |
| ENST00000507379.6:c.5196C>T | ENSP00000423224.2:p.Val1732= | |
| ENST00000509732.6:c.5250C>T | ENSP00000426541.2:p.Val1750= | |
| ENST00000512211.7:c.5250C>T | ENSP00000423828.3:p.Val1750= | |
| ENST00000257430.9:c.5250C>T MANE Select | ENSP00000257430.4:p.Val1750= | |
| ENST00000257430.8:c.5250C>T | ENSP00000257430.4:p.Val1750= | |
| ENST00000508376.6:c.5250C>T | ENSP00000427089.2:p.Val1750= | |
| ENST00000508624.5:c.*4572C>T | ENSP00000424265.1:n.*4572C>T | |
| ENST00000520401.1:c.230+11872C>T | ||
| NM_000038.5:c.5250C>T | NP_000029.2:p.Val1750= | |
| NM_001127510.2:c.5250C>T | NP_001120982.1:p.Val1750= | |
| NM_001127511.2:c.5196C>T | NP_001120983.2:p.Val1732= | |
| NM_001354895.1:c.5250C>T | NP_001341824.1:p.Val1750= | |
| NM_001354896.1:c.5304C>T | NP_001341825.1:p.Val1768= | |
| NM_001354897.1:c.5280C>T | NP_001341826.1:p.Val1760= | |
| NM_001354898.1:c.5175C>T | NP_001341827.1:p.Val1725= | |
| NM_001354899.1:c.5166C>T | NP_001341828.1:p.Val1722= | |
| NM_001354900.1:c.5127C>T | NP_001341829.1:p.Val1709= | |
| NM_001354901.1:c.5073C>T | NP_001341830.1:p.Val1691= | |
| NM_001354902.1:c.4977C>T | NP_001341831.1:p.Val1659= | |
| NM_001354903.1:c.4947C>T | NP_001341832.1:p.Val1649= | |
| NM_001354904.1:c.4872C>T | NP_001341833.1:p.Val1624= | |
| NM_001354905.1:c.4770C>T | NP_001341834.1:p.Val1590= | |
| NM_001354906.1:c.4401C>T | NP_001341835.1:p.Val1467= | |
| NM_000038.6:c.5250C>T MANE Select | NP_000029.2:p.Val1750= | |
| NM_001127510.3:c.5250C>T | NP_001120982.1:p.Val1750= | |
| NM_001127511.3:c.5196C>T | NP_001120983.2:p.Val1732= | |
| NM_001354895.2:c.5250C>T | NP_001341824.1:p.Val1750= | |
| NM_001354896.2:c.5304C>T | NP_001341825.1:p.Val1768= | |
| NM_001354897.2:c.5280C>T | NP_001341826.1:p.Val1760= | |
| NM_001354898.2:c.5175C>T | NP_001341827.1:p.Val1725= | |
| NM_001354899.2:c.5166C>T | NP_001341828.1:p.Val1722= | |
| NM_001354900.2:c.5127C>T | NP_001341829.1:p.Val1709= | |
| NM_001354901.2:c.5073C>T | NP_001341830.1:p.Val1691= | |
| NM_001354902.2:c.4977C>T | NP_001341831.1:p.Val1659= | |
| NM_001354903.2:c.4947C>T | NP_001341832.1:p.Val1649= | |
| NM_001354904.2:c.4872C>T | NP_001341833.1:p.Val1624= | |
| NM_001354905.2:c.4770C>T | NP_001341834.1:p.Val1590= | |
| NM_001354906.2:c.4401C>T | NP_001341835.1:p.Val1467= |