Linked Data
dbSNP Id:
rs11649622
gnomAD v2:
16-83605265-G-A
gnomAD v3:
16-83571660-G-A
gnomAD v4:
16-83571660-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83571660G>A , CM000678.2:g.83571660G>A | GRCh38 |
| NC_000016.9:g.83605265G>A , CM000678.1:g.83605265G>A | GRCh37 |
| NC_000016.8:g.82162766G>A | NCBI36 |
| NG_052819.1:g.949867G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.961-30794G>A MANE Select | ENSP00000479395.1:n.961-30794G>A | |
| ENST00000268613.14:c.1102-30794G>A | ENSP00000268613.10:n.1102-30794G>A | |
| ENST00000428848.7:c.844-30794G>A | ENSP00000394557.3:n.844-30794G>A | |
| ENST00000539548.6:c.*593-30794G>A | ENSP00000442225.2:n.*593-30794G>A | |
| ENST00000566620.5:c.925-30794G>A | ENSP00000454435.3:n.925-30794G>A | |
| ENST00000567109.5:c.961-30794G>A | ENSP00000479395.1:n.961-30794G>A | |
| ENST00000622885.4:c.805-30794G>A | ENSP00000483719.1:n.805-30794G>A | |
| NM_001220488.1:c.1102-30794G>A | NP_001207417.1:n.1102-30794G>A | |
| NM_001220489.1:c.844-30794G>A | NP_001207418.1:n.844-30794G>A | |
| NM_001220490.1:c.199-30794G>A | NP_001207419.1:n.199-30794G>A | |
| NM_001257.4:c.961-30794G>A | NP_001248.1:n.961-30794G>A | |
| XM_011522804.1:c.658-30794G>A | XP_011521106.1:n.658-30794G>A | |
| XM_011522805.1:c.1102-30794G>A | XP_011521107.1:n.1102-30794G>A | |
| XM_011522804.3:c.658-30794G>A | XP_011521106.1:n.658-30794G>A | |
| NM_001257.5:c.961-30794G>A MANE Select | NP_001248.1:n.961-30794G>A | |
| NM_001220488.2:c.1102-30794G>A | NP_001207417.1:n.1102-30794G>A | |
| NM_001220489.2:c.844-30794G>A | NP_001207418.1:n.844-30794G>A | |
| NM_001220490.2:c.199-30794G>A | NP_001207419.1:n.199-30794G>A |