Linked Data
dbSNP Id:
rs538259371
gnomAD v2:
22-45689280-G-A
gnomAD v3:
22-45293399-G-A
gnomAD v4:
22-45293399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293399G>A , CM000684.2:g.45293399G>A | GRCh38 |
| NC_000022.10:g.45689280G>A , CM000684.1:g.45689280G>A | GRCh37 |
| NC_000022.9:g.44067944G>A | NCBI36 |
| NG_016203.1:g.13413G>A | |
| NG_016203.2:g.13413G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.704+86G>A MANE Select | ENSP00000216211.4:n.704+86G>A | |
| ENST00000216211.8:c.704+86G>A | ENSP00000216211.4:n.704+86G>A | |
| ENST00000396082.2:c.341+86G>A | ENSP00000379391.2:n.341+86G>A | |
| NM_001167574.1:c.341+86G>A | NP_001161046.1:n.341+86G>A | |
| NM_006953.3:c.704+86G>A | NP_008884.1:n.704+86G>A | |
| XM_011530364.1:c.710+86G>A | XP_011528666.1:n.710+86G>A | |
| XM_011530365.1:c.347+86G>A | XP_011528667.1:n.347+86G>A | |
| NM_006953.4:c.704+86G>A MANE Select | NP_008884.1:n.704+86G>A | |
| NM_001167574.2:c.341+86G>A | NP_001161046.1:n.341+86G>A |