Linked Data
dbSNP Id:
rs778760084
ExAC:
2:189927692 A / T
gnomAD v2:
2-189927692-A-T
gnomAD v4:
2-189062966-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189062966A>T , CM000664.2:g.189062966A>T | GRCh38 |
| NC_000002.11:g.189927692A>T , CM000664.1:g.189927692A>T | GRCh37 |
| NC_000002.10:g.189635937A>T | NCBI36 |
| NG_011799.1:g.121914T>A | |
| NG_011799.2:g.121914T>A | |
| NG_011799.3:g.167336T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.1923+44T>A MANE Select | ENSP00000364000.3:n.1923+44T>A | |
| ENST00000374866.7:c.1923+44T>A | ENSP00000364000.3:n.1923+44T>A | |
| ENST00000470524.2:n.29+44T>A | ||
| ENST00000618828.1:c.762+44T>A | ENSP00000482184.1:n.762+44T>A | |
| NM_000393.3:c.1923+44T>A | NP_000384.2:n.1923+44T>A | |
| XM_011510573.1:c.1785+44T>A | XP_011508875.1:n.1785+44T>A | |
| NM_000393.4:c.1923+44T>A | NP_000384.2:n.1923+44T>A | |
| XM_011510573.3:c.1785+44T>A | XP_011508875.1:n.1785+44T>A | |
| NM_000393.5:c.1923+44T>A MANE Select | NP_000384.2:n.1923+44T>A |