Linked Data
dbSNP Id:
rs368014776
ExAC:
1:169099311 G / A
gnomAD v2:
1-169099311-G-A
gnomAD v3:
1-169130073-G-A
gnomAD v4:
1-169130073-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169130073G>A , CM000663.2:g.169130073G>A | GRCh38 |
| NC_000001.10:g.169099311G>A , CM000663.1:g.169099311G>A | GRCh37 |
| NC_000001.9:g.167365935G>A | NCBI36 |
| NG_023230.1:g.28365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494797.2:c.463G>A | ENSP00000477015.2:p.Val155Ile | |
| ENST00000685155.1:c.463G>A | ENSP00000508678.1:p.Val155Ile | |
| ENST00000685762.1:c.463G>A | ENSP00000508918.1:p.Val155Ile | |
| ENST00000685792.1:c.463G>A | ENSP00000508616.1:p.Val155Ile | |
| ENST00000686702.1:c.463G>A | ENSP00000509060.1:p.Val155Ile | |
| ENST00000687013.1:n.4981G>A | ||
| ENST00000687182.1:n.478G>A | ||
| ENST00000687745.1:c.463G>A | ENSP00000509323.1:p.Val155Ile | |
| ENST00000688406.1:n.3392G>A | ||
| ENST00000688755.1:c.631G>A | ENSP00000508725.1:p.Val211Ile | |
| ENST00000689522.1:c.631G>A | ENSP00000509039.1:p.Val211Ile | |
| ENST00000690184.1:c.631G>A | ENSP00000509517.1:p.Val211Ile | |
| ENST00000690604.1:n.2506G>A | ||
| ENST00000691106.1:c.271G>A | ENSP00000508710.1:p.Val91Ile | |
| ENST00000691753.1:c.463G>A | ENSP00000509877.1:p.Val155Ile | |
| ENST00000691802.1:c.271G>A | ENSP00000510565.1:p.Val91Ile | |
| ENST00000692003.1:n.3392G>A | ||
| ENST00000367815.9:c.631G>A MANE Select | ENSP00000356789.3:p.Val211Ile | |
| ENST00000367815.8:c.631G>A | ENSP00000356789.3:p.Val211Ile | |
| ENST00000367816.5:c.631G>A | ENSP00000356790.1:p.Val211Ile | |
| NM_001677.3:c.631G>A | NP_001668.1:p.Val211Ile | |
| NM_001677.4:c.631G>A MANE Select | NP_001668.1:p.Val211Ile |