Linked Data
ClinVar Variation Id:
259052
dbSNP Id:
rs2228014
ExAC:
2:136873084 G / A
gnomAD v2:
2-136873084-G-A
gnomAD v3:
2-136115514-G-A
gnomAD v4:
2-136115514-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136115514G>A , CM000664.2:g.136115514G>A | GRCh38 |
| NC_000002.11:g.136873084G>A , CM000664.1:g.136873084G>A | GRCh37 |
| NC_000002.10:g.136589554G>A | NCBI36 |
| NG_011587.1:g.7642C>T , LRG_51:g.7642C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696136.1:c.402C>T | ENSP00000512428.1:p.Ile134= | |
| ENST00000696137.1:c.369C>T | ENSP00000512429.1:p.Ile123= | |
| ENST00000696152.1:c.369C>T | ENSP00000512443.1:p.Ile123= | |
| ENST00000696228.1:c.402C>T | ENSP00000512494.1:p.Ile134= | |
| ENST00000241393.4:c.414C>T MANE Select | ENSP00000241393.3:p.Ile138= | |
| ENST00000241393.3:c.414C>T | ENSP00000241393.3:p.Ile138= | |
| ENST00000409817.1:c.426C>T | ENSP00000386884.1:p.Ile142= | |
| ENST00000466288.1:n.608C>T | ||
| NM_001008540.1:c.426C>T | NP_001008540.1:p.Ile142= | |
| NM_003467.2:c.414C>T , LRG_51t1:c.414C>T | NP_003458.1:p.Ile138= | |
| NM_001008540.2:c.426C>T | NP_001008540.1:p.Ile142= | |
| NM_001348056.1:c.627C>T | NP_001334985.1:p.Ile209= | |
| NM_001348059.1:c.513C>T | NP_001334988.1:p.Ile171= | |
| NM_001348060.1:c.369C>T | NP_001334989.1:p.Ile123= | |
| NM_001348056.2:c.627C>T | NP_001334985.1:p.Ile209= | |
| NM_001348059.2:c.513C>T | NP_001334988.1:p.Ile171= | |
| NM_001348060.2:c.369C>T | NP_001334989.1:p.Ile123= | |
| NM_003467.3:c.414C>T MANE Select | NP_003458.1:p.Ile138= |