Linked Data
ClinVar Variation Id:
142310
dbSNP Id:
rs200875161
ExAC:
16:23641448 A / G
gnomAD v2:
16-23641448-A-G
gnomAD v3:
16-23630127-A-G
gnomAD v4:
16-23630127-A-G
ERepo:
CA294362/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23630127A>G , CM000678.2:g.23630127A>G | GRCh38 |
| NC_000016.9:g.23641448A>G , CM000678.1:g.23641448A>G | GRCh37 |
| NC_000016.8:g.23548949A>G | NCBI36 |
| NG_007406.1:g.16231T>C , LRG_308:g.16231T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2033T>C | ENSP00000460666.3:p.Ile678Thr | |
| ENST00000565038.2:c.212-852T>C | ENSP00000459882.2:n.212-852T>C | |
| ENST00000566069.6:c.2027T>C | ENSP00000459237.2:p.Ile676Thr | |
| ENST00000697377.2:c.2033T>C | ENSP00000513286.2:p.Ile678Thr | |
| ENST00000697379.2:c.2033T>C | ENSP00000513287.2:p.Ile678Thr | |
| ENST00000561514.2:c.1142T>C | ENSP00000460666.2:p.Ile381Thr | |
| ENST00000697374.1:c.1142T>C | ENSP00000513284.1:p.Ile381Thr | |
| ENST00000697375.1:n.3374T>C | ||
| ENST00000697376.1:c.1142T>C | ENSP00000513285.1:p.Ile381Thr | |
| ENST00000697377.1:c.1142T>C | ENSP00000513286.1:p.Ile381Thr | |
| ENST00000697378.1:n.2547T>C | ||
| ENST00000697379.1:c.1142T>C | ENSP00000513287.1:p.Ile381Thr | |
| ENST00000697380.1:n.955T>C | ||
| ENST00000697381.1:n.722T>C | ||
| ENST00000697382.1:c.1142T>C | ENSP00000513288.1:p.Ile381Thr | |
| ENST00000697383.1:c.49-852T>C | ENSP00000513289.1:n.49-852T>C | |
| ENST00000697384.1:n.2181T>C | ||
| ENST00000261584.9:c.2027T>C MANE Select | ENSP00000261584.4:p.Ile676Thr | |
| ENST00000261584.8:c.2027T>C | ENSP00000261584.4:p.Ile676Thr | |
| ENST00000565038.1:c.87-852T>C | ||
| ENST00000568219.5:c.1142T>C | ENSP00000454703.2:p.Ile381Thr | |
| NM_024675.3:c.2027T>C , LRG_308t1:c.2027T>C | NP_078951.2:p.Ile676Thr | |
| XM_011545946.1:c.2033T>C | XP_011544248.1:p.Ile678Thr | |
| XM_011545947.1:c.2033T>C | XP_011544249.1:p.Ile678Thr | |
| XM_011545948.1:c.1142T>C | XP_011544250.1:p.Ile381Thr | |
| XR_950851.1:n.2823T>C | ||
| XM_011545946.2:c.2033T>C | XP_011544248.1:p.Ile678Thr | |
| XM_011545947.2:c.2033T>C | XP_011544249.1:p.Ile678Thr | |
| XM_011545948.2:c.1142T>C | XP_011544250.1:p.Ile381Thr | |
| XM_017023671.1:c.2033T>C | XP_016879160.1:p.Ile678Thr | |
| XM_017023672.2:c.2027T>C | XP_016879161.1:p.Ile676Thr | |
| XM_017023673.2:c.2027T>C | XP_016879162.1:p.Ile676Thr | |
| NM_024675.4:c.2027T>C MANE Select | NP_078951.2:p.Ile676Thr |