Linked Data
ClinVar Variation Id:
157926
dbSNP Id:
rs2217342
ExAC:
19:42489516 A / C
gnomAD v2:
19-42489516-A-C
gnomAD v3:
19-41985364-A-C
gnomAD v4:
19-41985364-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41985364A>C , CM000681.2:g.41985364A>C | GRCh38 |
| NC_000019.9:g.42489516A>C , CM000681.1:g.42489516A>C | GRCh37 |
| NC_000019.8:g.47181356A>C | NCBI36 |
| NG_008015.1:g.13867T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.705T>G | ENSP00000444688.1:p.Thr235= | |
| ENST00000644613.1:c.666T>G | ENSP00000494711.1:p.Thr222= | |
| ENST00000645448.1:n.898T>G | ||
| ENST00000648268.1:c.666T>G MANE Select | ENSP00000498113.1:p.Thr222= | |
| ENST00000302102.9:c.666T>G | ENSP00000302397.5:p.Thr222= | |
| ENST00000441343.5:c.666T>G | ENSP00000411503.1:p.Thr222= | |
| ENST00000473086.3:c.576T>G | ENSP00000469129.2:p.Thr192= | |
| ENST00000543770.5:c.699T>G | ENSP00000437577.1:p.Thr233= | |
| ENST00000545399.5:c.705T>G | ENSP00000444688.1:p.Thr235= | |
| ENST00000602133.5:c.576T>G | ENSP00000471581.1:p.Thr192= | |
| NM_001256213.1:c.699T>G | NP_001243142.1:p.Thr233= | |
| NM_001256214.1:c.705T>G | NP_001243143.1:p.Thr235= | |
| NM_152296.4:c.666T>G | NP_689509.1:p.Thr222= | |
| XM_011526991.1:c.576T>G | XP_011525293.1:p.Thr192= | |
| NM_152296.5:c.666T>G MANE Select | NP_689509.1:p.Thr222= | |
| NM_001256214.2:c.705T>G | NP_001243143.1:p.Thr235= | |
| NM_001256213.2:c.699T>G | NP_001243142.1:p.Thr233= |