Linked Data
dbSNP Id:
rs758366412
ExAC:
1:94508848 T / A
gnomAD v2:
1-94508848-T-A
gnomAD v4:
1-94043292-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043292T>A , CM000663.2:g.94043292T>A | GRCh38 |
| NC_000001.10:g.94508848T>A , CM000663.1:g.94508848T>A | GRCh37 |
| NC_000001.9:g.94281436T>A | NCBI36 |
| NG_009073.1:g.82858A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3190+44A>T MANE Select | ENSP00000359245.3:n.3190+44A>T | |
| ENST00000370225.3:c.3190+44A>T | ENSP00000359245.3:n.3190+44A>T | |
| ENST00000536513.5:c.-64-3203A>T | ENSP00000439707.2:n.-64-3203A>T | |
| NM_000350.2:c.3190+44A>T | NP_000341.2:n.3190+44A>T | |
| NM_000350.3:c.3190+44A>T MANE Select | NP_000341.2:n.3190+44A>T |