Linked Data
dbSNP Id:
rs11155002
gnomAD v2:
6-139107230-G-A
gnomAD v3:
6-138786093-G-A
gnomAD v4:
6-138786093-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138786093G>A , CM000668.2:g.138786093G>A | GRCh38 |
| NC_000006.11:g.139107230G>A , CM000668.1:g.139107230G>A | GRCh37 |
| NC_000006.10:g.139148923G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617445.5:c.477+712G>A MANE Select | ENSP00000482946.1:n.477+712G>A | |
| ENST00000332797.10:c.747+712G>A | ENSP00000332716.6:n.747+712G>A | |
| ENST00000610978.1:c.408+712G>A | ENSP00000479544.1:n.408+712G>A | |
| ENST00000611852.4:c.747+712G>A | ENSP00000479060.1:n.747+712G>A | |
| ENST00000617445.4:c.477+712G>A | ENSP00000482946.1:n.477+712G>A | |
| NM_015439.2:c.747+712G>A | NP_056254.1:n.747+712G>A | |
| XM_011535726.1:c.747+712G>A | XP_011534028.1:n.747+712G>A | |
| XM_011535727.1:c.747+712G>A | XP_011534029.1:n.747+712G>A | |
| NM_015439.3:c.477+712G>A MANE Select | NP_056254.2:n.477+712G>A |