Linked Data
dbSNP Id:
rs2053366601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516510T>G , CM000679.2:g.75516510T>G | GRCh38 |
| NC_000017.10:g.73512591T>G , CM000679.1:g.73512591T>G | GRCh37 |
| NC_000017.9:g.71024186T>G | NCBI36 |
| NG_013041.1:g.4983T>G | |
| NG_033152.1:g.4074A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-83+124T>G | ENSP00000406559.4:n.-83+124T>G | |
| ENST00000679370.1:n.443+124T>G | ||
| ENST00000434205.7:c.-83+124T>G | ENSP00000406559.3:n.-83+124T>G | |
| XM_006721821.2:c.-248+124T>G | XP_006721884.1:n.-248+124T>G | |
| XM_005257229.4:c.-51T>G | XP_005257286.1:n.-51T>G |