Linked Data
dbSNP Id:
rs7522462
gnomAD v2:
1-200881595-G-A
gnomAD v3:
1-200912467-G-A
gnomAD v4:
1-200912467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200912467G>A , CM000663.2:g.200912467G>A | GRCh38 |
| NC_000001.10:g.200881595G>A , CM000663.1:g.200881595G>A | GRCh37 |
| NC_000001.9:g.199148218G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413687.3:c.1644+330G>A MANE Select | ENSP00000392105.2:n.1644+330G>A | |
| ENST00000367342.8:c.1899+330G>A | ENSP00000356311.4:n.1899+330G>A | |
| ENST00000413687.2:c.1644+330G>A | ENSP00000392105.2:n.1644+330G>A | |
| ENST00000465162.1:n.179+330G>A | ||
| NM_001142569.2:c.1644+330G>A | NP_001136041.1:n.1644+330G>A | |
| NM_018265.3:c.1941+330G>A | NP_060735.3:n.1941+330G>A | |
| XM_011509754.1:c.1644+330G>A | XP_011508056.1:n.1644+330G>A | |
| XM_011509755.1:c.1644+330G>A | XP_011508057.1:n.1644+330G>A | |
| XM_011509754.2:c.1644+330G>A | XP_011508056.1:n.1644+330G>A | |
| NM_001142569.3:c.1644+330G>A MANE Select | NP_001136041.1:n.1644+330G>A | |
| NM_001367289.1:c.1584+390G>A | NP_001354218.1:n.1584+390G>A | |
| NM_001367290.1:c.1107+330G>A | NP_001354219.1:n.1107+330G>A | |
| NM_018265.4:c.1899+330G>A | NP_060735.4:n.1899+330G>A |