Linked Data
dbSNP Id:
rs1473248667
gnomAD v2:
15-91044444-T-C
gnomAD v3:
15-90501212-T-C
gnomAD v4:
15-90501212-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501212T>C , CM000677.2:g.90501212T>C | GRCh38 |
| NC_000015.9:g.91044444T>C , CM000677.1:g.91044444T>C | GRCh37 |
| NC_000015.8:g.88845448T>C | NCBI36 |
| NG_052946.1:g.117972T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1104T>C MANE Select | ENSP00000268182.5:n.*1104T>C | |
| ENST00000268182.9:c.*1104T>C | ENSP00000268182.5:n.*1104T>C | |
| ENST00000558957.1:n.2136T>C | ||
| ENST00000561086.1:n.1845T>C | ||
| NM_003870.3:c.*1104T>C | NP_003861.1:n.*1104T>C | |
| XR_001751409.2:n.6207T>C | ||
| NM_003870.4:c.*1104T>C MANE Select | NP_003861.1:n.*1104T>C |