Linked Data
dbSNP Id:
rs151094571
ExAC:
4:68797711 G / A
gnomAD v2:
4-68797711-G-A
gnomAD v3:
4-67931993-G-A
gnomAD v4:
4-67931993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67931993G>A , CM000666.2:g.67931993G>A | GRCh38 |
| NC_000004.11:g.68797711G>A , CM000666.1:g.68797711G>A | GRCh37 |
| NC_000004.10:g.68480306G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.320C>T MANE Select | ENSP00000426911.2:p.Thr107Ile | |
| ENST00000334830.11:c.329C>T | ENSP00000334611.7:p.Thr110Ile | |
| ENST00000396188.3:c.320C>T | ENSP00000379491.3:p.Thr107Ile | |
| ENST00000508048.5:c.320C>T | ENSP00000426911.2:p.Thr107Ile | |
| ENST00000513536.5:c.260C>T | ENSP00000427621.1:p.Thr87Ile | |
| NM_001114387.1:c.320C>T | NP_001107859.1:p.Thr107Ile | |
| NM_182606.3:c.329C>T | NP_872412.3:p.Thr110Ile | |
| NM_001114387.2:c.320C>T MANE Select | NP_001107859.1:p.Thr107Ile | |
| NM_182606.4:c.329C>T | NP_872412.3:p.Thr110Ile |