Linked Data
dbSNP Id:
rs764874444
ExAC:
12:8757848 G / C
gnomAD v2:
12-8757848-G-C
gnomAD v4:
12-8605252-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605252G>C , CM000674.2:g.8605252G>C | GRCh38 |
| NC_000012.11:g.8757848G>C , CM000674.1:g.8757848G>C | GRCh37 |
| NC_000012.10:g.8649115G>C | NCBI36 |
| NG_011588.1:g.12595C>G , LRG_17:g.12595C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.390C>G | ENSP00000445691.1:p.His130Gln | |
| ENST00000543081.6:c.390C>G | ENSP00000439103.2:p.His130Gln | |
| ENST00000544516.6:c.157-915C>G | ENSP00000439538.2:n.157-915C>G | |
| ENST00000545576.2:n.499C>G | ||
| ENST00000696246.1:c.375C>G | ENSP00000512504.1:p.His125Gln | |
| ENST00000696271.1:n.510C>G | ||
| ENST00000696272.1:c.375C>G | ENSP00000512515.1:p.His125Gln | |
| ENST00000696273.1:c.423C>G | ENSP00000512516.1:p.His141Gln | |
| ENST00000229335.11:c.390C>G MANE Select | ENSP00000229335.6:p.His130Gln | |
| ENST00000229335.10:c.390C>G | ENSP00000229335.6:p.His130Gln | |
| ENST00000537228.5:c.390C>G | ENSP00000445691.1:p.His130Gln | |
| ENST00000543081.5:c.386C>G | ||
| ENST00000544516.5:c.153-915C>G | ||
| ENST00000545512.1:c.386C>G | ||
| ENST00000545576.1:n.424C>G | ||
| NM_020661.2:c.390C>G , LRG_17t1:c.390C>G | NP_065712.1:p.His130Gln | |
| XM_011520772.1:c.390C>G | XP_011519074.1:p.His130Gln | |
| XM_011520773.1:c.390C>G | XP_011519075.1:p.His130Gln | |
| NM_001330343.1:c.390C>G | NP_001317272.1:p.His130Gln | |
| NM_020661.3:c.390C>G | NP_065712.1:p.His130Gln | |
| XM_011520773.2:c.390C>G | XP_011519075.1:p.His130Gln | |
| NM_020661.4:c.390C>G MANE Select | NP_065712.1:p.His130Gln | |
| NM_001330343.2:c.390C>G | NP_001317272.1:p.His130Gln |