Linked Data
dbSNP Id:
rs764543443
ExAC:
12:8758005 A / G
gnomAD v2:
12-8758005-A-G
gnomAD v4:
12-8605409-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605409A>G , CM000674.2:g.8605409A>G | GRCh38 |
| NC_000012.11:g.8758005A>G , CM000674.1:g.8758005A>G | GRCh37 |
| NC_000012.10:g.8649272A>G | NCBI36 |
| NG_011588.1:g.12438T>C , LRG_17:g.12438T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.233T>C | ENSP00000445691.1:p.Val78Ala | |
| ENST00000543081.6:c.233T>C | ENSP00000439103.2:p.Val78Ala | |
| ENST00000544516.6:c.157-1072T>C | ENSP00000439538.2:n.157-1072T>C | |
| ENST00000545576.2:n.342T>C | ||
| ENST00000696246.1:c.218T>C | ENSP00000512504.1:p.Val73Ala | |
| ENST00000696271.1:n.353T>C | ||
| ENST00000696272.1:c.218T>C | ENSP00000512515.1:p.Val73Ala | |
| ENST00000696273.1:c.266T>C | ENSP00000512516.1:p.Val89Ala | |
| ENST00000229335.11:c.233T>C MANE Select | ENSP00000229335.6:p.Val78Ala | |
| ENST00000229335.10:c.233T>C | ENSP00000229335.6:p.Val78Ala | |
| ENST00000537228.5:c.233T>C | ENSP00000445691.1:p.Val78Ala | |
| ENST00000543081.5:c.229T>C | ||
| ENST00000544516.5:c.153-1072T>C | ||
| ENST00000545512.1:c.229T>C | ||
| ENST00000545576.1:n.267T>C | ||
| NM_020661.2:c.233T>C , LRG_17t1:c.233T>C | NP_065712.1:p.Val78Ala | |
| XM_011520772.1:c.233T>C | XP_011519074.1:p.Val78Ala | |
| XM_011520773.1:c.233T>C | XP_011519075.1:p.Val78Ala | |
| NM_001330343.1:c.233T>C | NP_001317272.1:p.Val78Ala | |
| NM_020661.3:c.233T>C | NP_065712.1:p.Val78Ala | |
| XM_011520773.2:c.233T>C | XP_011519075.1:p.Val78Ala | |
| NM_020661.4:c.233T>C MANE Select | NP_065712.1:p.Val78Ala | |
| NM_001330343.2:c.233T>C | NP_001317272.1:p.Val78Ala |