Linked Data
ClinVar Variation Id:
1461744
ClinVar RCV Id:
RCV001966011
dbSNP Id:
rs774929306
ExAC:
19:10468717 C / G
gnomAD v4:
19-10358041-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10358041C>G , CM000681.2:g.10358041C>G | GRCh38 |
| NC_000019.9:g.10468717C>G , CM000681.1:g.10468717C>G | GRCh37 |
| NC_000019.8:g.10329717C>G | NCBI36 |
| NG_007872.1:g.27532G>C , LRG_121:g.27532G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*622G>C | ENSP00000514307.1:n.*622G>C | |
| ENST00000525976.6:c.2273G>C | ENSP00000434831.2:p.Ser758Thr | |
| ENST00000527481.3:c.2273G>C | ENSP00000466340.2:p.Ser758Thr | |
| ENST00000529370.6:n.2604G>C | ||
| ENST00000529739.2:n.2687G>C | ||
| ENST00000530829.2:c.*1824G>C | ENSP00000436826.2:n.*1824G>C | |
| ENST00000531836.6:c.2273G>C | ENSP00000436175.2:p.Ser758Thr | |
| ENST00000533334.2:c.*315G>C | ENSP00000432320.2:n.*315G>C | |
| ENST00000534228.2:n.2687G>C | ||
| ENST00000699354.1:n.375G>C | ||
| ENST00000699355.1:c.*333G>C | ENSP00000514328.1:n.*333G>C | |
| ENST00000699356.1:n.2687G>C | ||
| ENST00000699357.1:n.2687G>C | ||
| ENST00000699358.1:c.2273G>C | ENSP00000514329.1:p.Ser758Thr | |
| ENST00000699360.1:c.2273G>C | ENSP00000514331.1:p.Ser758Thr | |
| ENST00000525621.6:c.2273G>C MANE Select | ENSP00000431885.1:p.Ser758Thr | |
| ENST00000264818.10:c.2273G>C | ENSP00000264818.6:p.Ser758Thr | |
| ENST00000524462.5:c.1718G>C | ENSP00000433203.1:p.Ser573Thr | |
| ENST00000525621.5:c.2273G>C | ENSP00000431885.1:p.Ser758Thr | |
| ENST00000529370.5:c.2273G>C | ENSP00000432728.1:p.Ser758Thr | |
| ENST00000533334.1:c.562G>C | ||
| NM_003331.4:c.2273G>C , LRG_121t1:c.2273G>C | NP_003322.3:p.Ser758Thr | |
| XM_011528245.1:c.2273G>C | XP_011526547.1:p.Ser758Thr | |
| XM_011528246.1:c.1976G>C | XP_011526548.1:p.Ser659Thr | |
| XM_011528247.1:c.1976G>C | XP_011526549.1:p.Ser659Thr | |
| XM_011528248.1:c.2273G>C | XP_011526550.1:p.Ser758Thr | |
| XM_011528249.1:c.947G>C | XP_011526551.1:p.Ser316Thr | |
| XM_011528251.1:c.530G>C | XP_011526553.1:p.Ser177Thr | |
| XM_011528246.3:c.1976G>C | XP_011526548.1:p.Ser659Thr | |
| XM_011528249.2:c.947G>C | XP_011526551.1:p.Ser316Thr | |
| XR_001753750.1:n.2430G>C | ||
| XR_001753751.1:n.2430G>C | ||
| XR_001753752.1:n.2542G>C | ||
| XR_002958353.1:n.2311G>C | ||
| NM_003331.5:c.2273G>C MANE Select | NP_003322.3:p.Ser758Thr | |
| NM_001385197.1:c.2273G>C | NP_001372126.1:p.Ser758Thr | |
| NM_001385198.1:c.2273G>C | NP_001372127.1:p.Ser758Thr | |
| NM_001385199.1:c.2087G>C | NP_001372128.1:p.Ser696Thr | |
| NM_001385200.1:c.2273G>C | NP_001372129.1:p.Ser758Thr | |
| NM_001385201.1:c.2075G>C | NP_001372130.1:p.Ser692Thr | |
| NM_001385202.1:c.2189G>C | NP_001372131.1:p.Ser730Thr | |
| NM_001385203.1:c.2273G>C | NP_001372132.1:p.Ser758Thr | |
| NM_001385204.1:c.2273G>C | NP_001372133.1:p.Ser758Thr | |
| NM_001385205.1:c.2183G>C | NP_001372134.1:p.Ser728Thr | |
| NM_001385206.1:c.2147G>C | NP_001372135.1:p.Ser716Thr | |
| NM_001385207.1:c.2255G>C | NP_001372136.1:p.Ser752Thr |