Linked Data
dbSNP Id:
rs2535633
gnomAD v2:
3-52859630-C-G
gnomAD v3:
3-52825614-C-G
gnomAD v4:
3-52825614-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52825614C>G , CM000665.2:g.52825614C>G | GRCh38 |
| NC_000003.11:g.52859630C>G , CM000665.1:g.52859630C>G | GRCh37 |
| NC_000003.10:g.52834670C>G | NCBI36 |
| NG_016006.1:g.10088G>C | |
| NG_016006.2:g.10088G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266041.9:c.759+272G>C MANE Select | ENSP00000266041.4:n.759+272G>C | |
| ENST00000266041.8:c.759+272G>C | ENSP00000266041.4:n.759+272G>C | |
| ENST00000406595.5:c.759+272G>C | ENSP00000384425.1:n.759+272G>C | |
| ENST00000441637.2:c.331+272G>C | ||
| ENST00000468472.1:c.*891+272G>C | ENSP00000422253.1:n.*891+272G>C | |
| ENST00000485816.5:c.759+272G>C | ENSP00000417824.1:n.759+272G>C | |
| ENST00000491663.5:n.804+272G>C | ||
| ENST00000537897.5:n.644+272G>C | ||
| NM_001166449.1:c.759+272G>C | NP_001159921.1:n.759+272G>C | |
| NM_002218.4:c.759+272G>C | NP_002209.2:n.759+272G>C | |
| NM_002218.5:c.759+272G>C MANE Select | NP_002209.2:n.759+272G>C | |
| NM_001166449.2:c.759+272G>C | NP_001159921.1:n.759+272G>C |