Linked Data
dbSNP Id:
rs1440887006
gnomAD v2:
22-45688933-G-A
gnomAD v3:
22-45293052-G-A
gnomAD v4:
22-45293052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293052G>A , CM000684.2:g.45293052G>A | GRCh38 |
| NC_000022.10:g.45688933G>A , CM000684.1:g.45688933G>A | GRCh37 |
| NC_000022.9:g.44067597G>A | NCBI36 |
| NG_016203.1:g.13066G>A | |
| NG_016203.2:g.13066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.572-129G>A MANE Select | ENSP00000216211.4:n.572-129G>A | |
| ENST00000216211.8:c.572-129G>A | ENSP00000216211.4:n.572-129G>A | |
| ENST00000396082.2:c.209-129G>A | ENSP00000379391.2:n.209-129G>A | |
| NM_001167574.1:c.209-129G>A | NP_001161046.1:n.209-129G>A | |
| NM_006953.3:c.572-129G>A | NP_008884.1:n.572-129G>A | |
| XM_011530364.1:c.578-129G>A | XP_011528666.1:n.578-129G>A | |
| XM_011530365.1:c.215-129G>A | XP_011528667.1:n.215-129G>A | |
| NM_006953.4:c.572-129G>A MANE Select | NP_008884.1:n.572-129G>A | |
| NM_001167574.2:c.209-129G>A | NP_001161046.1:n.209-129G>A |