Linked Data
dbSNP Id:
rs11062578
gnomAD v2:
12-3327167-G-A
gnomAD v3:
12-3218001-G-A
gnomAD v4:
12-3218001-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3218001G>A , CM000674.2:g.3218001G>A | GRCh38 |
| NC_000012.11:g.3327167G>A , CM000674.1:g.3327167G>A | GRCh37 |
| NC_000012.10:g.3197428G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000011898.10:c.63+16745G>A MANE Select | ENSP00000011898.5:n.63+16745G>A | |
| ENST00000407263.2:c.63+16745G>A | ENSP00000384488.1:n.63+16745G>A | |
| ENST00000640568.1:c.336+16745G>A | ENSP00000491848.1:n.336+16745G>A | |
| ENST00000649909.1:c.-129-60420G>A | ENSP00000497370.1:n.-129-60420G>A | |
| ENST00000011898.9:c.63+16745G>A | ENSP00000011898.5:n.63+16745G>A | |
| ENST00000407263.1:c.63+16745G>A | ENSP00000384488.1:n.63+16745G>A | |
| ENST00000431374.6:n.105+2646G>A | ||
| ENST00000444315.6:c.*22+11583G>A | ENSP00000412908.2:n.*22+11583G>A | |
| ENST00000537971.5:c.63+16745G>A | ENSP00000444799.1:n.63+16745G>A | |
| NM_001168320.1:c.63+16745G>A | NP_001161792.1:n.63+16745G>A | |
| NM_006675.4:c.63+16745G>A | NP_006666.1:n.63+16745G>A | |
| XM_011520912.1:c.-130+11583G>A | XP_011519214.1:n.-130+11583G>A | |
| XM_011520913.1:c.-130+2646G>A | XP_011519215.1:n.-130+2646G>A | |
| XM_011520912.3:c.-130+11583G>A | XP_011519214.1:n.-130+11583G>A | |
| XM_011520913.3:c.-130+2646G>A | XP_011519215.1:n.-130+2646G>A | |
| XR_001748559.1:n.361+16745G>A | ||
| NM_006675.5:c.63+16745G>A MANE Select | NP_006666.1:n.63+16745G>A | |
| NM_001168320.2:c.63+16745G>A | NP_001161792.1:n.63+16745G>A |