Linked Data
dbSNP Id:
rs10946216
gnomAD v2:
6-167538897-T-C
gnomAD v3:
6-167125409-T-C
gnomAD v4:
6-167125409-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167125409T>C , CM000668.2:g.167125409T>C | GRCh38 |
| NC_000006.11:g.167538897T>C , CM000668.1:g.167538897T>C | GRCh37 |
| NC_000006.10:g.167458887T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609590.2:n.2170-9525T>C | ||
| ENST00000705249.1:c.1066-10629T>C | ENSP00000516101.1:n.1066-10629T>C | |
| ENST00000705250.1:c.844-10629T>C | ENSP00000516102.1:n.844-10629T>C | |
| ENST00000705251.1:c.*713-10629T>C | ENSP00000516103.1:n.*713-10629T>C | |
| ENST00000705252.1:c.*536-10629T>C | ENSP00000516104.1:n.*536-10629T>C | |
| ENST00000705253.1:c.*536-10629T>C | ENSP00000516105.1:n.*536-10629T>C | |
| ENST00000705254.1:c.673-10629T>C | ENSP00000516106.1:n.673-10629T>C | |
| ENST00000705255.1:n.1692-10629T>C | ||
| ENST00000341935.10:c.-98+2186T>C MANE Select | ENSP00000343952.5:n.-98+2186T>C | |
| ENST00000643861.1:c.-98+2186T>C | ENSP00000493637.1:n.-98+2186T>C | |
| ENST00000341935.9:c.-98+2186T>C | ENSP00000343952.5:n.-98+2186T>C | |
| ENST00000349984.6:c.-98+2186T>C | ENSP00000339393.4:n.-98+2186T>C | |
| ENST00000400926.5:c.-97-10629T>C | ENSP00000383715.2:n.-97-10629T>C | |
| NM_004367.5:c.-97-10629T>C | NP_004358.2:n.-97-10629T>C | |
| NM_031409.3:c.-98+2186T>C | NP_113597.2:n.-98+2186T>C | |
| NM_004367.6:c.-97-10629T>C | NP_004358.2:n.-97-10629T>C | |
| NM_031409.4:c.-98+2186T>C MANE Select | NP_113597.2:n.-98+2186T>C | |
| NM_001394582.1:c.-98+2186T>C | NP_001381511.1:n.-98+2186T>C |