Linked Data
dbSNP Id:
rs752796959
ExAC:
12:8759518 C / T
gnomAD v2:
12-8759518-C-T
gnomAD v4:
12-8606922-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8606922C>T , CM000674.2:g.8606922C>T | GRCh38 |
| NC_000012.11:g.8759518C>T , CM000674.1:g.8759518C>T | GRCh37 |
| NC_000012.10:g.8650785C>T | NCBI36 |
| NG_011588.1:g.10925G>A , LRG_17:g.10925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.99G>A | ENSP00000445691.1:p.Val33= | |
| ENST00000543081.6:c.99G>A | ENSP00000439103.2:p.Val33= | |
| ENST00000544516.6:c.99G>A | ENSP00000439538.2:p.Val33= | |
| ENST00000545576.2:n.208G>A | ||
| ENST00000696246.1:c.84G>A | ENSP00000512504.1:p.Val28= | |
| ENST00000696271.1:n.219G>A | ||
| ENST00000696272.1:c.84G>A | ENSP00000512515.1:p.Val28= | |
| ENST00000696273.1:c.132G>A | ENSP00000512516.1:p.Val44= | |
| ENST00000229335.11:c.99G>A MANE Select | ENSP00000229335.6:p.Val33= | |
| ENST00000229335.10:c.99G>A | ENSP00000229335.6:p.Val33= | |
| ENST00000537228.5:c.99G>A | ENSP00000445691.1:p.Val33= | |
| ENST00000543081.5:c.95G>A | ||
| ENST00000544516.5:c.95G>A | ||
| ENST00000545512.1:c.95G>A | ||
| ENST00000545576.1:n.133G>A | ||
| NM_020661.2:c.99G>A , LRG_17t1:c.99G>A | NP_065712.1:p.Val33= | |
| XM_011520772.1:c.99G>A | XP_011519074.1:p.Val33= | |
| XM_011520773.1:c.99G>A | XP_011519075.1:p.Val33= | |
| NM_001330343.1:c.99G>A | NP_001317272.1:p.Val33= | |
| NM_020661.3:c.99G>A | NP_065712.1:p.Val33= | |
| XM_011520773.2:c.99G>A | XP_011519075.1:p.Val33= | |
| NM_020661.4:c.99G>A MANE Select | NP_065712.1:p.Val33= | |
| NM_001330343.2:c.99G>A | NP_001317272.1:p.Val33= |