Linked Data
dbSNP Id:
rs1378902535
gnomAD v2:
7-154210833-A-G
gnomAD v3:
7-154513748-A-G
gnomAD v4:
7-154513748-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154513748A>G , CM000669.2:g.154513748A>G | GRCh38 |
| NC_000007.13:g.154210833A>G , CM000669.1:g.154210833A>G | GRCh37 |
| NC_000007.12:g.153841766A>G | NCBI36 |
| NG_033878.1:g.631415A>G | |
| NG_033878.2:g.770763A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496611.2:c.272-26784A>G | ENSP00000516214.1:n.272-26784A>G | |
| ENST00000706130.1:c.275-26784A>G | ENSP00000516215.1:n.275-26784A>G | |
| ENST00000706151.1:c.-518-26784A>G | ENSP00000516234.1:n.-518-26784A>G | |
| ENST00000706152.1:n.86-2537A>G | ||
| ENST00000706153.1:n.103+13067A>G | ||
| ENST00000377770.8:c.458-26784A>G MANE Select | ENSP00000367001.3:n.458-26784A>G | |
| ENST00000332007.7:c.272-26784A>G | ENSP00000328226.3:n.272-26784A>G | |
| ENST00000377770.7:c.458-26784A>G | ENSP00000367001.3:n.458-26784A>G | |
| ENST00000404039.5:c.266-26784A>G | ENSP00000385578.1:n.266-26784A>G | |
| ENST00000406326.5:c.458-26784A>G | ENSP00000384393.1:n.458-26784A>G | |
| ENST00000427557.1:c.272-26784A>G | ENSP00000397303.1:n.272-26784A>G | |
| ENST00000496611.1:n.555-26784A>G | ||
| ENST00000619756.4:c.272-26784A>G | ENSP00000477855.1:n.272-26784A>G | |
| NM_001039350.2:c.266-26784A>G | NP_001034439.1:n.266-26784A>G | |
| NM_001290252.1:c.272-26784A>G | NP_001277181.1:n.272-26784A>G | |
| NM_001290253.1:c.458-26784A>G | NP_001277182.1:n.458-26784A>G | |
| NM_001936.4:c.272-26784A>G | NP_001927.3:n.272-26784A>G | |
| NM_130797.3:c.458-26784A>G | NP_570629.2:n.458-26784A>G | |
| XM_011515865.1:c.266-26784A>G | XP_011514167.1:n.266-26784A>G | |
| NM_001364497.1:c.275-26784A>G | NP_001351426.1:n.275-26784A>G | |
| NM_001364498.1:c.275-26784A>G | NP_001351427.1:n.275-26784A>G | |
| NM_001364499.1:c.275-26784A>G | NP_001351428.1:n.275-26784A>G | |
| NM_001364500.1:c.275-26784A>G | NP_001351429.1:n.275-26784A>G | |
| NM_001364501.1:c.266-26784A>G | NP_001351430.1:n.266-26784A>G | |
| NM_001364502.1:c.272-26784A>G | NP_001351431.1:n.272-26784A>G | |
| NR_157195.1:n.908-26784A>G | ||
| NR_157196.1:n.608-26784A>G | ||
| NM_130797.4:c.458-26784A>G MANE Select | NP_570629.2:n.458-26784A>G | |
| NM_001039350.3:c.266-26784A>G | NP_001034439.1:n.266-26784A>G | |
| NM_001290252.2:c.272-26784A>G | NP_001277181.1:n.272-26784A>G | |
| NM_001290253.2:c.458-26784A>G | NP_001277182.1:n.458-26784A>G | |
| NM_001364497.2:c.275-26784A>G | NP_001351426.1:n.275-26784A>G | |
| NM_001364498.2:c.275-26784A>G | NP_001351427.1:n.275-26784A>G | |
| NM_001364499.2:c.275-26784A>G | NP_001351428.1:n.275-26784A>G | |
| NM_001364500.2:c.275-26784A>G | NP_001351429.1:n.275-26784A>G | |
| NM_001364502.2:c.272-26784A>G | NP_001351431.1:n.272-26784A>G | |
| NM_001936.5:c.272-26784A>G | NP_001927.3:n.272-26784A>G | |
| NR_157196.2:n.608-26784A>G | ||
| NM_001364501.2:c.266-26784A>G | NP_001351430.1:n.266-26784A>G | |
| NR_157195.2:n.908-26784A>G |