Linked Data
dbSNP Id:
rs758134404
ExAC:
2:189927698 C / T
gnomAD v2:
2-189927698-C-T
gnomAD v4:
2-189062972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062972C>T , CM000664.2:g.189062972C>T | GRCh38 |
| NC_000002.11:g.189927698C>T , CM000664.1:g.189927698C>T | GRCh37 |
| NC_000002.10:g.189635943C>T | NCBI36 |
| NG_011799.1:g.121908G>A | |
| NG_011799.2:g.121908G>A | |
| NG_011799.3:g.167330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1923+38G>A MANE Select | ENSP00000364000.3:n.1923+38G>A | |
| ENST00000374866.7:c.1923+38G>A | ENSP00000364000.3:n.1923+38G>A | |
| ENST00000470524.2:n.29+38G>A | ||
| ENST00000618828.1:c.762+38G>A | ENSP00000482184.1:n.762+38G>A | |
| NM_000393.3:c.1923+38G>A | NP_000384.2:n.1923+38G>A | |
| XM_011510573.1:c.1785+38G>A | XP_011508875.1:n.1785+38G>A | |
| NM_000393.4:c.1923+38G>A | NP_000384.2:n.1923+38G>A | |
| XM_011510573.3:c.1785+38G>A | XP_011508875.1:n.1785+38G>A | |
| NM_000393.5:c.1923+38G>A MANE Select | NP_000384.2:n.1923+38G>A |