Linked Data
dbSNP Id:
rs2134095
ExAC:
1:165377552 G / A
gnomAD v2:
1-165377552-G-A
gnomAD v3:
1-165408315-G-A
gnomAD v4:
1-165408315-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165408315G>A , CM000663.2:g.165408315G>A | GRCh38 |
| NC_000001.10:g.165377552G>A , CM000663.1:g.165377552G>A | GRCh37 |
| NC_000001.9:g.163644176G>A | NCBI36 |
| NG_029517.1:g.42041C>T | |
| NG_029517.2:g.42041C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359842.10:c.1050C>T MANE Select | ENSP00000352900.5:p.Val350= | |
| ENST00000359842.9:c.1050C>T | ENSP00000352900.5:p.Val350= | |
| ENST00000619224.1:c.681C>T | ENSP00000482458.1:p.Val227= | |
| NM_001256570.1:c.681C>T | NP_001243499.1:p.Val227= | |
| NM_001256571.1:c.681C>T | NP_001243500.1:p.Val227= | |
| NM_006917.4:c.1050C>T | NP_008848.1:p.Val350= | |
| NM_006917.5:c.1050C>T MANE Select | NP_008848.1:p.Val350= | |
| NM_001256571.2:c.681C>T | NP_001243500.1:p.Val227= | |
| NM_001256570.2:c.681C>T | NP_001243499.1:p.Val227= |