Linked Data
dbSNP Id:
rs781033438
ExAC:
12:8757417 G / T
gnomAD v2:
12-8757417-G-T
gnomAD v4:
12-8604821-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604821G>T , CM000674.2:g.8604821G>T | GRCh38 |
| NC_000012.11:g.8757417G>T , CM000674.1:g.8757417G>T | GRCh37 |
| NC_000012.10:g.8648684G>T | NCBI36 |
| NG_011588.1:g.13026C>A , LRG_17:g.13026C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.499C>A | ENSP00000445691.1:p.Arg167= | |
| ENST00000543081.6:c.427+394C>A | ENSP00000439103.2:n.427+394C>A | |
| ENST00000544516.6:c.157-484C>A | ENSP00000439538.2:n.157-484C>A | |
| ENST00000545576.2:n.930C>A | ||
| ENST00000696246.1:c.484C>A | ENSP00000512504.1:p.Arg162= | |
| ENST00000696271.1:n.941C>A | ||
| ENST00000696272.1:c.514C>A | ENSP00000512515.1:p.Arg172= | |
| ENST00000696273.1:c.562C>A | ENSP00000512516.1:p.Arg188= | |
| ENST00000229335.11:c.529C>A MANE Select | ENSP00000229335.6:p.Arg177= | |
| ENST00000229335.10:c.529C>A | ENSP00000229335.6:p.Arg177= | |
| ENST00000537228.5:c.499C>A | ENSP00000445691.1:p.Arg167= | |
| ENST00000543081.5:c.423+394C>A | ||
| ENST00000544516.5:c.153-484C>A | ||
| ENST00000545512.1:c.525C>A | ||
| ENST00000545576.1:n.855C>A | ||
| NM_020661.2:c.529C>A , LRG_17t1:c.529C>A | NP_065712.1:p.Arg177= | |
| XM_011520772.1:c.499C>A | XP_011519074.1:p.Arg167= | |
| XM_011520773.1:c.427+394C>A | XP_011519075.1:n.427+394C>A | |
| NM_001330343.1:c.499C>A | NP_001317272.1:p.Arg167= | |
| NM_020661.3:c.529C>A | NP_065712.1:p.Arg177= | |
| XM_011520773.2:c.427+394C>A | XP_011519075.1:n.427+394C>A | |
| NM_020661.4:c.529C>A MANE Select | NP_065712.1:p.Arg177= | |
| NM_001330343.2:c.499C>A | NP_001317272.1:p.Arg167= |