Linked Data
dbSNP Id:
rs2239547
gnomAD v2:
3-52855229-T-C
gnomAD v3:
3-52821213-T-C
gnomAD v4:
3-52821213-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52821213T>C , CM000665.2:g.52821213T>C | GRCh38 |
| NC_000003.11:g.52855229T>C , CM000665.1:g.52855229T>C | GRCh37 |
| NC_000003.10:g.52830269T>C | NCBI36 |
| NG_016006.1:g.14489A>G | |
| NG_016006.2:g.14489A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266041.9:c.1540-83A>G MANE Select | ENSP00000266041.4:n.1540-83A>G | |
| ENST00000266041.8:c.1540-83A>G | ENSP00000266041.4:n.1540-83A>G | |
| ENST00000406595.5:c.1540-83A>G | ENSP00000384425.1:n.1540-83A>G | |
| ENST00000441637.2:c.1112-83A>G | ||
| ENST00000467462.1:n.447-83A>G | ||
| ENST00000468472.1:c.*1672-83A>G | ENSP00000422253.1:n.*1672-83A>G | |
| ENST00000484632.1:n.67-428A>G | ||
| ENST00000485816.5:c.1540-83A>G | ENSP00000417824.1:n.1540-83A>G | |
| ENST00000485894.1:n.263-83A>G | ||
| ENST00000491663.5:n.1585-83A>G | ||
| ENST00000537897.5:n.1425-83A>G | ||
| NM_001166449.1:c.1540-83A>G | NP_001159921.1:n.1540-83A>G | |
| NM_002218.4:c.1540-83A>G | NP_002209.2:n.1540-83A>G | |
| NM_002218.5:c.1540-83A>G MANE Select | NP_002209.2:n.1540-83A>G | |
| NM_001166449.2:c.1540-83A>G | NP_001159921.1:n.1540-83A>G |