Linked Data
dbSNP Id:
rs765364406
gnomAD v2:
12-8757515-T-G
gnomAD v3:
12-8604919-T-G
gnomAD v4:
12-8604919-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8604919T>G , CM000674.2:g.8604919T>G | GRCh38 |
| NC_000012.11:g.8757515T>G , CM000674.1:g.8757515T>G | GRCh37 |
| NC_000012.10:g.8648782T>G | NCBI36 |
| NG_011588.1:g.12928A>C , LRG_17:g.12928A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.428-27A>C | ENSP00000445691.1:n.428-27A>C | |
| ENST00000543081.6:c.427+296A>C | ENSP00000439103.2:n.427+296A>C | |
| ENST00000544516.6:c.157-582A>C | ENSP00000439538.2:n.157-582A>C | |
| ENST00000545576.2:n.832A>C | ||
| ENST00000696246.1:c.413-27A>C | ENSP00000512504.1:n.413-27A>C | |
| ENST00000696271.1:n.843A>C | ||
| ENST00000696272.1:c.416A>C | ENSP00000512515.1:p.Tyr139Ser | |
| ENST00000696273.1:c.464A>C | ENSP00000512516.1:p.Tyr155Ser | |
| ENST00000229335.11:c.431A>C MANE Select | ENSP00000229335.6:p.Tyr144Ser | |
| ENST00000229335.10:c.431A>C | ENSP00000229335.6:p.Tyr144Ser | |
| ENST00000537228.5:c.428-27A>C | ENSP00000445691.1:n.428-27A>C | |
| ENST00000543081.5:c.423+296A>C | ||
| ENST00000544516.5:c.153-582A>C | ||
| ENST00000545512.1:c.427A>C | ||
| ENST00000545576.1:n.757A>C | ||
| NM_020661.2:c.431A>C , LRG_17t1:c.431A>C | NP_065712.1:p.Tyr144Ser | |
| XM_011520772.1:c.428-27A>C | XP_011519074.1:n.428-27A>C | |
| XM_011520773.1:c.427+296A>C | XP_011519075.1:n.427+296A>C | |
| NM_001330343.1:c.428-27A>C | NP_001317272.1:n.428-27A>C | |
| NM_020661.3:c.431A>C | NP_065712.1:p.Tyr144Ser | |
| XM_011520773.2:c.427+296A>C | XP_011519075.1:n.427+296A>C | |
| NM_020661.4:c.431A>C MANE Select | NP_065712.1:p.Tyr144Ser | |
| NM_001330343.2:c.428-27A>C | NP_001317272.1:n.428-27A>C |