Linked Data
dbSNP Id:
rs776103881
ExAC:
1:197060134 A / T
gnomAD v2:
1-197060134-A-T
gnomAD v3:
1-197091004-A-T
gnomAD v4:
1-197091004-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091004A>T , CM000663.2:g.197091004A>T | GRCh38 |
| NC_000001.10:g.197060134A>T , CM000663.1:g.197060134A>T | GRCh37 |
| NC_000001.9:g.195326757A>T | NCBI36 |
| NG_015867.1:g.60691T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2769T>A | ||
| ENST00000367409.9:c.9482T>A MANE Select | ENSP00000356379.4:p.Ile3161Asn | |
| ENST00000680265.1:c.9704T>A | ENSP00000505384.1:p.Ile3235Asn | |
| ENST00000680710.1:c.9458T>A | ENSP00000506676.1:p.Ile3153Asn | |
| ENST00000294732.11:c.4727T>A | ENSP00000294732.7:p.Ile1576Asn | |
| ENST00000367408.5:c.2477T>A | ENSP00000356378.1:p.Ile826Asn | |
| ENST00000367409.8:c.9482T>A | ENSP00000356379.4:p.Ile3161Asn | |
| ENST00000612785.1:c.3440T>A | ENSP00000479244.1:p.Ile1147Asn | |
| NM_001206846.1:c.4727T>A | NP_001193775.1:p.Ile1576Asn | |
| NM_018136.4:c.9482T>A | NP_060606.3:p.Ile3161Asn | |
| NM_018136.5:c.9482T>A MANE Select | NP_060606.3:p.Ile3161Asn | |
| NM_001206846.2:c.4727T>A | NP_001193775.1:p.Ile1576Asn |