Linked Data
dbSNP Id:
rs55703807
gnomAD v2:
1-55543099-T-C
gnomAD v3:
1-55077426-T-C
gnomAD v4:
1-55077426-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55077426T>C , CM000663.2:g.55077426T>C | GRCh38 |
| NC_000001.10:g.55543099T>C , CM000663.1:g.55543099T>C | GRCh37 |
| NC_000001.9:g.55315687T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484447.6:c.7315-126A>G | ENSP00000489026.2:n.7315-126A>G | |
| ENST00000294383.7:c.7315-126A>G MANE Select | ENSP00000294383.5:n.7315-126A>G | |
| ENST00000294383.6:c.7315-126A>G | ENSP00000294383.5:n.7315-126A>G | |
| NM_015306.2:c.7315-126A>G | NP_056121.2:n.7315-126A>G | |
| XM_005270690.2:c.5530-126A>G | XP_005270747.1:n.5530-126A>G | |
| XM_006710511.2:c.7312-126A>G | XP_006710574.2:n.7312-126A>G | |
| XM_011541122.1:c.7315-126A>G | XP_011539424.1:n.7315-126A>G | |
| XM_005270690.3:c.5530-126A>G | XP_005270747.1:n.5530-126A>G | |
| XM_017000831.1:c.7375-126A>G | XP_016856320.1:n.7375-126A>G | |
| XM_017000832.1:c.7372-126A>G | XP_016856321.1:n.7372-126A>G | |
| XM_017000833.1:c.6850-126A>G | XP_016856322.1:n.6850-126A>G | |
| XM_017000834.1:c.6790-126A>G | XP_016856323.1:n.6790-126A>G | |
| XR_001737080.1:n.7633-126A>G | ||
| NM_015306.3:c.7315-126A>G MANE Select | NP_056121.2:n.7315-126A>G |