Linked Data
ClinVar Variation Id:
531722
ClinVar RCV Id:
RCV000638203
dbSNP Id:
rs201966711
gnomAD v4:
1-151683424-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151683424C>G , CM000663.2:g.151683424C>G | GRCh38 |
| NC_000001.10:g.151655900C>G , CM000663.1:g.151655900C>G | GRCh37 |
| NC_000001.9:g.149922524C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368838.2:c.815C>G | ||
| ENST00000368841.7:c.*889C>G | ENSP00000357834.2:n.*889C>G | |
| ENST00000368843.8:c.1218C>G | ENSP00000357836.3:p.Tyr406Ter | |
| ENST00000458013.7:c.1218C>G MANE Select | ENSP00000400333.2:p.Tyr406Ter | |
| ENST00000642349.1:c.952C>G | ENSP00000494331.1:n.952C>G | |
| ENST00000642376.1:c.855C>G | ENSP00000496645.1:p.Tyr285Ter | |
| ENST00000642479.1:c.*596C>G | ENSP00000496775.1:n.*596C>G | |
| ENST00000643179.1:n.1026C>G | ||
| ENST00000643937.1:n.896C>G | ||
| ENST00000644113.1:n.902C>G | ||
| ENST00000644970.1:n.1216C>G | ||
| ENST00000647328.1:n.939C>G | ||
| ENST00000647551.1:n.4667C>G | ||
| ENST00000368838.1:c.939C>G | ENSP00000357831.1:p.Tyr313Ter | |
| ENST00000368841.6:c.*889C>G | ENSP00000357834.2:n.*889C>G | |
| ENST00000368843.7:c.1218C>G | ENSP00000357836.3:p.Tyr406Ter | |
| ENST00000458013.6:c.1218C>G | ENSP00000400333.2:p.Tyr406Ter | |
| NM_030918.5:c.1218C>G | NP_112180.4:p.Tyr406Ter | |
| XM_005245509.1:c.1218C>G | XP_005245566.1:p.Tyr406Ter | |
| XM_005245510.2:c.909C>G | XP_005245567.1:p.Tyr303Ter | |
| XM_005245511.3:c.660C>G | XP_005245568.1:p.Tyr220Ter | |
| XM_011510024.1:c.915C>G | XP_011508326.1:p.Tyr305Ter | |
| XM_011510025.1:c.855C>G | XP_011508327.1:p.Tyr285Ter | |
| NM_001330723.1:c.1218C>G | NP_001317652.1:p.Tyr406Ter | |
| XM_005245510.3:c.909C>G | XP_005245567.1:p.Tyr303Ter | |
| XM_005245511.4:c.660C>G | XP_005245568.1:p.Tyr220Ter | |
| XM_011510024.2:c.915C>G | XP_011508326.1:p.Tyr305Ter | |
| XM_011510025.2:c.855C>G | XP_011508327.1:p.Tyr285Ter | |
| XM_017002417.1:c.855C>G | XP_016857906.1:p.Tyr285Ter | |
| XM_024450038.1:c.660C>G | XP_024305806.1:p.Tyr220Ter | |
| XM_024450039.1:c.660C>G | XP_024305807.1:p.Tyr220Ter | |
| NM_001330723.2:c.1218C>G MANE Select | NP_001317652.1:p.Tyr406Ter | |
| NM_030918.6:c.1218C>G | NP_112180.4:p.Tyr406Ter |