Linked Data
dbSNP Id:
rs2256184
gnomAD v2:
6-31380583-A-G
gnomAD v3:
6-31412806-A-G
gnomAD v4:
6-31412806-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31412806A>G , CM000668.2:g.31412806A>G | GRCh38 |
| NC_000006.11:g.31380583A>G , CM000668.1:g.31380583A>G | GRCh37 |
| NC_000006.10:g.31488562A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449934.7:c.*29+346A>G MANE Select | ENSP00000413079.1:n.*29+346A>G | |
| ENST00000674069.1:c.*29+346A>G | ENSP00000501157.1:n.*29+346A>G | |
| ENST00000421350.1:c.701+346A>G | ENSP00000402410.1:n.701+346A>G | |
| ENST00000449934.6:c.*29+346A>G | ENSP00000413079.1:n.*29+346A>G | |
| ENST00000616296.4:c.*29+346A>G | ENSP00000482382.1:n.*29+346A>G | |
| NM_001177519.2:c.*29+346A>G | NP_001170990.1:n.*29+346A>G | |
| NM_001289152.1:c.*29+346A>G | NP_001276081.1:n.*29+346A>G | |
| NM_001289153.1:c.*29+346A>G | NP_001276082.1:n.*29+346A>G | |
| NM_001289154.1:c.*29+346A>G | NP_001276083.1:n.*29+346A>G | |
| NM_001177519.3:c.*29+346A>G MANE Select | NP_001170990.1:n.*29+346A>G | |
| NM_001289152.2:c.*29+346A>G | NP_001276081.1:n.*29+346A>G | |
| NM_001289153.2:c.*29+346A>G | NP_001276082.1:n.*29+346A>G | |
| NM_001289154.2:c.*29+346A>G | NP_001276083.1:n.*29+346A>G |